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Nuchal translucency

Updated on June 20, 2007

What does nuchal translucency mean to me?

(**SCROLL DOWN TO THE WORD *NEW* TO SEE THE LATEST POSTINGS OF MEDICAL STUDIES ON NUCHAL TRANSLUCENCY**) 

A measurement is taken of the fluid behind the baby's neck at about 10-12 weeks gestation. In Ultrascreen, it is combined with a blood test from the mother to determine the risk of genetic defect or heart problem. (The blood test measures hormones called PAPP-A and free beta HCG. A PAPP-A measurement that is very low and HCG that is very high can indicate a higher risk of a problem.)

In the vast majority of cases, the baby is healthy. So why the thick fluid behind the neck? Scientists posit that the fluid collects when the heart can't circulate it fast enough, which is to be expected in tiny fetuses just beginning to develop.

This study  shows that scientists are trying to figure out why women get positive Ultrascreen results (signifying their baby is at risk) when the baby is actually healthy.

Here's a great page that explains many terms and shows some charts of risk factors and blood test levels. 

Here's my story:
I went for a routine ultrasound at about 9 weeks to "date the pregnancy." I knew what my dates were, but they were offering, and insurance covered it. I figured, hey, free peek at the baby! It was not done in my doc's office, and the ultrasound tech looked really young. She told us she was concerned by the measurement of the fluid behind the neck. It measured 3.6mm. She sent us for ultrascreen. Meanwhile I googled the topic and was certain my baby would have Down Syndrome or Trisomy 13 or something. At the Ultrascreen, the tech said she didn't see anything that looked like a bad sign. My blood work was fantastic, in the lowest of the risks. (free-hcg - .43 [this is pretty low. High is supposed to be a Trisomy indicator.] PAPP-A - 60th percentile. [Normal]) But they sent the 3.6mm measurement along with the bloodwork to the company that crunches the numbers in their software. I know the tech did not measure that in any of her three measurements, but they are supposed to send the largest one. My risk factor was elevated because of the measurement, which I have since learned is extremely difficult and can be subjective.
I continued to worry, but did not want any invasive tests.
I did agree to the Level II ultrasound and the fetal echocardiogram, which is an ultrasound of the baby's heart. Both found nothing to worry about.
Michael is now eight months old and shows no signs of any problems.
I wish I had never done this test, as it ruined my peaceful feelings about the pregnancy.

 

The most popular place people have to discuss getting a positive screen result for nuchal translucency (that is, the measurement of the fluid behind the baby's neck that is higher than 3.0mm/3.0 millimeters) is the comments section of babycenter.com
Here is the link:
http://www.babycenter.com/comments/pregnancy/prenatalhealth/118
Many of the posters there are scared and just learning about Ultrascreen and NT. While the Ultrascreen (nuchal translucency measurement plus blood test of the mother for certain markers and hormone levels) is sold as being better than the AFP, this is because it is done earlier in pregnancy. It actually has about the same false positive rate. It does help eliminate some mothers who would have automatically been told to do an amniocentesis in the past. (Those 40 and older, for example.) But it also scares the heck out of young mothers who have to deal with the fear that something could be wrong for almost seven whole months until their baby is born.
 

I will post more links as I find them.

Another study: 

LIMITATIONS OF USING NT TO PREDICT PROBLEMS:

This study points out a fairly big difference in an NT of 2.5mm versus 3.5mm.

This is a nice even-handed scientific explanation that points out only 10% to 15% of babies with increased NT actually have a genetic problem. It states that high NT also indicates a 15% risk of a heart problem. That does not mean 30% of babies with high NT either have a genetic problem or a heart problem. There is some overlap between those two groups. Many babies with a genetic/chromosomal problem, especially Down's Syndrome, also have heart problems. So more than 70% of babies with high NT are healthy and typical at birth and on into childhood.

NT AND HEART:

1) This one shows the NT changes depending on the heartbeat.

2) This study concludes high NT measurements in babies with trisomy may be caused by heart failure. (For those that don't know, heart failure doesn't mean the heart stops. The medical definition is a chronic condition where the heart can't keep up. The symptoms in otherwise healthy adults are shortness of breath and fatigue.) 

NT AND CORD AROUND NECK:
This study says when the cord is around the neck (called nuchal cord) this can cause an increased NT in a baby who has no problems and will be born normally. So if the cord is seen around the neck, coupled with high NT, this should be reassuring to the patient, because the "nuchal cord" is a likely cause of high NT.

NT AND WHAT DOCTORS STILL DON'T UNDERSTAND: This study states upfront: The ultrasonographic measurement of nuchal translucency thickness at 10-13 weeks of gestation is accepted as an efficient method of screening for chromosomal abnormalities. However, the underlying mechanism producing increased nuchal translucency thickness is still poorly understood. In the study of 65 fetuses, 17 had high NT measurement. Five of those turned out to have chromosomal abnormalities.

NASAL BONE: This study shows the absence of the nasal bone is an independent factor that should be considered, and can't be predicted simply using the PAPP-A and free HCG blood test.

This abstract from a 2003 study shows that looking for the nasal bone has a lower false positive rate than using NT.  

DWARFISM: This study follows one expectant mother who had a normal CVS test after a high NT. A later ultrasound found skeletal evidence of dwarfism. A DNA test was done confirming this.

OUTCOMES FOR HIGH NT CHILDREN:

This study's abstract states that if there is increased NT but the CVS or amnio is clear and the 20-22 week ultrasound is normal, "the risk of an adverse perinatal outcome and postnatal developmental delay is not statistically increased" over those with a normal NT!

 This study (FULL TEXT PDF!) published in 2007 followed children who had increased NT (greater than 3.5mm) but looked normal on their ultrasounds. The study found those children were not at greater risk for developmental delays at age 2. "Counseling should emphasize that when the karyotype is normal and no fetal structural malformation was missed prenatally after resolution of nuchal thickening, the prognosis is not impaired at the age of 2 years."

ANXIETY AND PREGNANCY

At least all your worrying isn't hurting the baby, according to this study released this month. (Abstract)

**NEW**

NT AND MATERNAL AGE

This study abstract shows the Ultrascreen (NT, blood tests, etc) is much more accurate than using maternal age alone. However the mother's age is usually factored into the formula at most labs. They take the NT measurement, the blood test results and maternal age and put them in a computer formula to give you your new risk result. This is the ratio you receive as your screening "result." It is just a risk factor, not a diagnosis. Doctors usually compare this risk factor to the general risk calculated by maternal age alone. If your risk is greater than normal for your age, usually you will be referred for follow up testing. If your risk factor is lower than normal for your age, you will usually be told everything is likely to be OK because the test shows you have a decreased risk for problems compared to other mothers your age.

NT instant results

In some practices, women are being given the Ultrascreen dried blood sample card at home to mail in prior to the test. After the ultrasound, instant results are given. Instant results have correlated with an increase in CVS rates. (Probably because more people know they want to have CVS before it is too late for the test.) See abstract here.

Nuchal translucency

What fetal echocardiogram and Level II ultrasounds are like:

Here's a post of mine to babycenter from 2006, describing additional prenatal testing I had as a result of a high risk factor from my ultrascreen:

Regarding fetal echo - The perinatologist said 22 weeks was better than 20, because the heart is more developed, but they were only able to schedule me in at 20.5 weeks, so that's when I had it done. It was 2 days after my Level II u/s, so I can compare it for you. At the Level II, she spent probably 10-15 minutes looking at the heart and checking for the 4 chambers. At the fetal echo, she spent 30 minutes just on the heart and the umbilical cord. She would get a really good image, then record the heart beating for about 10 to 15 seconds. She would add in this red and blue color that somehow showed how the blood flows. She turned me on each side for different views, also. She also did the same for the umbilical cord with the colored blood flow thing. At the end, a cardiologist came in to talk to me. She said she could see all the valves (I don't understand how she could see them, but I trust her.) She said all the blood was flowing the right way, and she saw no large holes in the heart. (The smaller ones they can't see, but would also be less likely to be a serious problem at birth.)

Level I vs. Level II u.s: I had a Level I with my daughter, and it was mostly visualizing the 4-chambered heart, making sure the cord has 3 vessels, and measuring the head and long bones. Lots of measuring.

With the Level II, she was specially trained to look for markers of a genetic anomaly. She looked for the nasal bone, and 3 bones in the pinky finger. She carefully measured the legs, which can be short in DS babies. She looked for all the parts of the brain. She looked for calcium deposits in the heart or the bowel and for fluid collecting anywhere. In general it was more thorough and the images seemed more clear, and she was looking for the markers.

On Worrying...

Here are some excerpts from posts I wrote to Babycenter forums in 2006.

4/3/2006

I just try to keep in mind that babies don't come with guarantees. Even someone whose baby is perfect at birth can develop autism or leukemia or something awful. The only difference in diagnosing during pregnancy is that you can worry about something you don't even know whether it's real or how bad it will be. My friend whose daughter has Down Syndrome said if they had known ahead of time, their worry would have been way out of proportion to reality, because it is just really not that bad. But I know there are other syndromes and such that can be fatal and moms would want to know. It's just such a tough situation not really knowing, but try to keep in mind that none of us ever know. Even after they are born, anything can happen, so we never get to stop worrying. It's just a different and worse kind of worry we have all gone through with these scary tests. My best to everyone!

4/3/2006

Reading this board and looking at studies I just came to my own conclusion that I really didn't think in my heart that anything was wrong with the baby. I just decided after doing research that increased nuchal fluid was not a strong enough indicator. Sure, I was worried sick for a couple weeks, my heart racing, which I knew wasn't good for the baby. But since I never had the NT test with my daughter, I figured hers could have looked exactly the same and we would never have known. I concentrated on being angry because I felt a little tricked into doing a test that has such a high false positive rate. I wrote a long letter to my doctor explaining why I didn't want additional testing. Thinking along those lines really cemented the idea in my mind that I really didn't think anything was wrong, and if it was, there is nothing I could do about it anyway.

More on worrying

Another babycenter post.

4/4/2006

In the beginning, I really thought this was a bad sign and surely something was wrong, but the more I looked into it and read stories on this board of the many, many healthy outcomes, I just felt at peace and truly believed in my heart the baby is healthy. I guess I just ran out of steam worrying - I couldn't sustain that kind of worry, being pregnant and having a 1-year-old. Physically, I couldn't take it, so I had to come to some peace. It also helped talking to my friend, who told me how great his daughter (who has DS) is. I don't know how other people cope. Once I came to that peace, any remaining anxiety I had was channeled into anger over how unreliable these tests are, and how it feels like everyone is trying to make money off me, and how hard they make it to refuse tests. My doc believes the tests don't cause extra worry, because you will be worried about the baby's health anyway, and you will be relieved when the tests are good. But sometimes the tests aren't good, and in my opinion, waiting for a test and waiting for the results are a much more intense kind of worry.

Another thing I did was ask lots of questions during the u.s. Like, "What are you looking at now? Does it look normal?" It was much better than the apprehensive silence you sometimes get if the u/s tech is not chatty. Each time something looked fine, I relaxed more. That's the nice thing about u/s and fetal echo - you get the results right there.

Anyway, good luck to you. I hope you find your own peace somehow.

Wise words from another poster:

Regarding the stories about handling the stress, it warmed my heart to see the support given to each other on this site. The weeks in Feb and March were the most anxiety ridden of my life. Empty promises of “I have this feeling everything will be fine” from well-meaning friends and family did little to reassure me, and also irritated me at times. The one thing that made me feel better was one morning when I asked my husband “how are we going to handle it if we get some bad news?”. He paused and then said “I guess we’ll love him just a little more, since he’ll probably need it just a little more”. In that moment I knew that this was the most true statement I’d heard yet. And somehow that comforted me.

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      anonymous 2 years ago

      Hi there, I'm glad to have stumbled on to this site me and my wife are expecting out first child together. Her first and my second. Everything was well until the ips scan it came back positive with a measurement of 9mm. We have our cvs scan tomorrow and my wife is completely heart broken as they have given us a 1in2 chance for downs or other issues. Just a week ago she was the most happy i have ever seen her and as of today the most sad. I pray for good results but am feeling not very good about the very high reading. I hope for the best and i wish you all well as no one should have to go threw this.

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      anonymous 4 years ago

      I'm worried! I got a call today from my doctor saying my 2nd trimester blood work indicated a high risk of DS! My ultra sound at 13 weeks showed the pocket on the neck st 1.5mm! I thought since that was normal all would be ok! They also told me my first trimester blood work was normal! Any ideas on how it went from good to bad so quickly!

    • profile image

      anonymous 4 years ago

      @anonymous: I am not wishing to the worst but since I am so worried and thinking the worst, if it is going to be bad news I just hope for me as well God to make the decision.

    • profile image

      anonymous 4 years ago

      @anonymous: Thank you for telling us, i hope all the other mums can do the same.

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      anonymous 4 years ago

      A week and a half ago I went to get an ultrasound at 10 weeks. I am 29years old.. I was told then the baby's neck was thick and she was conserned.... I didn't hear much after that. She was throwing numbers out and I was just trying not to lose it. (already emotional) Later my husband and I were trying to remember the size and I thought maybe she said 1.7 and my husband thought 1.8. So we looked up the average size at 10 weeks and found out 1.5mm was..... Then my mind was thinking well maybe the Dr said it was in the 2mm range.... so I had to call my regular Dr and asked her if she got the paper work back. She told me it was 1.6mm....... So for 24 hours I was a total mess for nothing....well I hope nothing... I am kinda ticked off that the Dr that gave me the ultrasound even told me anything!! Cause even with my OB telling me everything is fine. I am still scared to death. And another reason I am mad at the utrasound dr is becasue she seen how torn up I was and she didn't even seem to care, it was like she was 'yes you should be very worried' she didn't say that but she might as well have. I am going back to check in five days...I will be 12 weeks. I am not worried about DS. I just dont want my baby to be in pain or die..... No matter what I know God has a reason and I would never terminate. Lord help me! 5 days are goign really ssslllloooowwwww

    • profile image

      anonymous 4 years ago

      @anonymous: Sometimes it's not necessary to post your "story" because it simply puts fear into those of us that are already terrified. I'm sorry for your loss.

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      anonymous 4 years ago

      Ladies and gentlemen I would like to put my input and opinion about this infamous NT test. I am a qualified health care provider with significant clinical experience and a graduate with an emphasis in research. These test have there place but we must understand that in American medicine there is alot of money to be made by the hospital/clinic/healthcare provider/insurance company which=malpractice. Obstetrics has become a science lab and most patients are the knock mice used to create a wonderful peer reviewed journal that will be published every five years or so. With that said, Ladies who are expecting and recieved this test, understand that the human body is unique in itself and the practice of medicine is able to understand the genesis of childbirth but they have not been able to define individuality in terms of conception. Peace and hope is what you all need and trust that what is meant to happen will and some of these interventions are not in the best interest of you and your baby. Conclusion-These Test are not Worth Your Time OR Money, "unless you have had a history of genetic/chromosomal defects and your peace of mind will be fulfilled with knowing what to expect before your precious child arrives and takes his/ her first breath of life. Just my opinion, God Bless All

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      anonymous 4 years ago

      I just wanted to say Thank You for this site, it is such a hard time while waiting fo results..I am 40 yrs old and so far I've had a 4mm NT ultrasound reading, they sent the bloodworks in and it's going to be at least 5 more business days. I realized that my dates were wrong when I was at the appointment. My genetic counselor asked what the FIRST day of my last period was, and up until then I had been going on the last day of my last period, does anyone know if this would change my results for the better?

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      istabraq100 4 years ago

      rec my bloods back, they came up as high risk for downs :( having amnio in sept.

    • profile image

      istabraq100 4 years ago

      rec my bloods back, they came up as high risk for downs :( having amnio in sept.

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      istabraq100 5 years ago

      @anonymous: Are the materna t21 the blood tests?

    • profile image

      anonymous 5 years ago

      Just and update I got my materna t21 results back and they are positive for downs. I thought I had a good chance they weren't since my number was so low. I am going to do a cvs to confirm. I am still hoping for the best

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      istabraq100 5 years ago

      Help! I had my scan yesterday (10+6 days) and was told my baby had a high NT measurement although she didnt tell me the reading, the fluid goes from the babys neck, right down to its lower back and there is a LOT, I didnt even think it was part of the baby until the lady doing the scan pointed it out. I have to go back next week to see if its gone down but there was so much I cant see it going down to an acceptable level. Has anyone else come across a baby with this much before?

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      anonymous 5 years ago

      I really like this site. I had a nt measurement of 3.2 to 3.5 at 11 w1d. I have been worried sick. I am doing the maternal t21 test and should have results for all the trisomies hopefully by Mon the 13th. Time is moving so slowly and I cannot think about anying else. Your site has given me some encouragement. Thank you!

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      anonymous 5 years ago

      @rachael1stbaby: I had my 12 week scan done and was told the neck thickness measuement was 3.6 and i am 37 years old. waiting on bloodwork right now. Myself and husband are very stressed out and can't help but cry everyday. Anyone going through the same as me ??? what were your results ?

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      anonymous 5 years ago

      Thanks for posting...I got my ultrascreen last week at 11w 4 days. I am 33 years old. The nuchal measurement was 3.44 and my bloodwork came back HCG: .7 and PAPP-A: 2.5. My odds ended up being 1:81. They did see a nasal bone in the ulrasound, but mentioned that it is not factored in when your odds are less then 1:100. I have schedules an amnio for when I am 15 weeks. I have been very stressed , but it definitely gives me some sense of relief to read that other people have had similar situations and their babies have been fine. Thanks so much for posting! Good luck to everyone!

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      anonymous 5 years ago

      Thanks this was helpful, I just got test results back today im 12 weeks 5 days pregnant and my baby has a 2% risk of downsyndrome. They said the fluid on the back of the neck measured a 3 when normal is a 2 and combined with the blood work it put me at risk. My heart melted when the doctor called and told me this news as I was standing in the checkout line at Target with my 2 year old. They told me my options for further testing... They didnt tell me that I could get the 15-18 week quad and combine the two test for more accurate results they just told me about the cvs and amino and shipped off my file to another office. So of course we have been worried all day and I have been doing alot of research and have found a little more peace by reading other peoples stories!

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      mitral16 5 years ago

      Great tips, cheers to the article author. Its understandable to me now, the effectiveness and importance is mind-boggling. Thank you once again and good luck!

      Heart Valve Repair

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      anonymous 5 years ago

      @anonymous: Than you for your story!

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      anonymous 5 years ago

      This is certainly a marvelous article. Thank you for taking a few minutes to summarize this all out for us. It is a great guide!

      Heart valve replacement

    • profile image

      anonymous 5 years ago

      This is certainly a marvelous article. Thank you for taking a few minutes to summarize this all out for us. It is a great guide!

      Heart valve replacement

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      anonymous 5 years ago

      @anonymous: Update now that my baby is here. She's perfect! She was born at 39w3d as healthy as can be with no signs of genetic or health problems. Hugs to everyone going through the uncertainty of it all. I hope my story can help someone and give them hope!

    • profile image

      anonymous 5 years ago

      @anonymous: Update now that my baby is here. She's perfect! She was born at 39w3d as healthy as can be with no signs of genetic or health problems. Hugs to everyone going through the uncertainty of it all. I hope my story can help someone and give them hope!

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      anonymous 5 years ago

      Your site gave me some understanding. I'm 39, my NT measurement was 3.5, HCG a little high and PAAP A perfect. With all these factors I was told we had a 1/5 chance of having a down's baby. We went in for the CVS test and are now waiting. This is going to be the longest week i think I've ever experienced.

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      anonymous 5 years ago

      @rachael1stbaby: Hi I just read your post now... I'm sorry you are going through this, I know it's hard. The only thing you can do is wait, I know that doesn't really help. I had to know if something was a definitely wrong with my baby so I chose to have a CVS right a way, although the tests came back 2 weeks later, I knew 100% that he did not have a chromosomal abnormality. Luckily, my baby boy was ok.

      If this is an option for you and you want to test, I suggest that. Having the blood work done is not accurate, I had that and they came back pretty bad. If you can try to be positive, remember there is a strong possiblitly that your baby is ok. Have you talked with a genetic counselor? They tend to be a little harsh and negative, but they are imformative for options on testing. Good luck and please keep me updated.

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      anonymous 5 years ago

      @rachael1stbaby: Hi I just read your post now... I'm sorry you are going through this, I know it's hard. The only thing you can do is wait, I know that doesn't really help. I had to know if something was a definitely wrong with my baby so I chose to have a CVS right a way, although the tests came back 2 weeks later, I knew 100% that he did not have a chromosomal abnormality. Luckily, my baby boy was ok.

      If this is an option for you and you want to test, I suggest that. Having the blood work done is not accurate, I had that and they came back pretty bad. If you can try to be positive, remember there is a strong possiblitly that your baby is ok. Have you talked with a genetic counselor? They tend to be a little harsh and negative, but they are imformative for options on testing. Good luck and please keep me updated.

    • profile image

      anonymous 5 years ago

      I found this link and it basically explains how easily an error can be made. I feel my second trimester testing will put me at ease.

      http://www.geneticsofpregnancy.com/Encyclopedia/Id...

    • profile image

      rachael1stbaby 5 years ago

      @anonymous: i have just had my 1st scan at11.3 weeks and the nuchal is messuring 4.9 i understand this is high and am ammazed by your storry could you give me any help and addvice ?????

      im booked in for the next test and have had my bloods taken but im am freeking out !!!!

    • profile image

      rachael1stbaby 5 years ago

      @anonymous: i have just had my 1st scan at11.3 weeks and the nuchal is messuring 4.9 i understand this is high and am ammazed by your storry could you give me any help and addvice ?????

      im booked in for the next test and have had my bloods taken but im am freeking out !!!!

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      anonymous 5 years ago

      Hello everyone I had several post from spring of last year... Last April I had my NT scan done, and my baby's nuchal fold was 4.0 at 12 weeks. My baby was given the odds of 1:5 that he had a chromosomal abnormality or heart defect. That same day, I had a CVS done. My husband and I had to wait 2 agonizing weeks, some of the most emotional days of my life. We finally got a call that the CVS was normal.

      We still had numerious invasive ultrasounds done until I was about 28 weeks pregnant to check the baby's heart... and those were all normal. On November 1, 2011, I gave birth to a healthy baby boy who has blessed our lives in so many ways and completed our family.

      If you are going through what I had, please know that nothing is written in stone and please stay positive. Good luck everyone!

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      anonymous 5 years ago

      Updated information. I found that my NT results were only1.6mm, my hcg 2.2 but the formula used placed me at high risk, 1-34, for DS. I know my LMP is off, but they assured me they go by CRL . I am praying my second trimester labs change the results. According to what I found online 40-44yrs is my current "group", last pregnancies were the 35-39 group. What a difference a year can make.

    • profile image

      anonymous 5 years ago

      Updated information. I found that my NT results were only1.6mm, my hcg 2.2 but the formula used placed me at high risk, 1-34, for DS. I know my LMP is off, but they assured me they go by CRL . I am praying my second trimester labs change the results. According to what I found online 40-44yrs is my current "group", last pregnancies were the 35-39 group. What a difference a year can make.

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      anonymous 5 years ago

      I am happy I stumbled across this site, but feeling a little uneducated. I turn 41 in a few days and I am 13 weeks with our final baby. We endured several miscarriages due to a blood clotting disorder. My last two babies were born in 2009 and 2010. I had never heard of a NT US. Knowing we would give birth, regardless, we never had a CVS or Amnio. This round, I am 13 weeks, today, and just received the NT results. I do not know the measurements (I did not think to ask) I was told that odds were <1 in 13,800 for a DS on NT US, yet labs, based on the darn formula, put me at 1 in 34 ( cut off was 1 in 100). I have yet to worry my husband, as I know how he feels about termination. I have decided to wait for next US...Anyone have a DS baby who passed the NT US but had risk factor based on labs? My baby is who she/he is and is loved already, but I feel like the excitement has been stolen and replaced with anxiety. My extended family feeds on stress, so I cannot allow this information to leak; therefore, I rely on the advice of strangers!

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      anonymous 5 years ago

      I had a low free HCG, normal results from my combined screening- this includes the nuchal fold measurement, but markers on the scan (a large brain cyst and talipes) prompted me to have an amnio. My child had full DS, yet the combined screening results were normal. The amnio is not without risks, but still it is very low risk. It was absolutely worth it.

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      anonymous 5 years ago

      I had a low free HCG, normal results from my combined screening- this includes the nuchal fold measurement, but markers on the scan (a large brain cyst and talipes) prompted me to have an amnio. My child had full DS, yet the combined screening results were normal. The amnio is not without risks, but still it is very low risk. It was absolutely worth it.

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      anonymous 5 years ago

      Just an update, I went to the specialist in Houston, before they could do the CVS they wanted to do another NT scan and confirm what my Doctor had seen, well they did a very extensive and long ultrasound and could not see anything out of the ordinary my NT was 1.38 mm and they advise me not to have the CVS done since they did not see a real reason to get it unless I wanted to, they recommended a more extensive blood test to see if there was any other indicator of a problem, I received my blood test results today and everything looks normal, I am relief but still a bit uneasy with the fact that a Dr. can tell you such a life changing diagnosis without all the proof they need, I am so glad everything is ok with my baby, I wish all of you the same luck, I know how this feels and is horrible the wait and the countless sleepless nights, hang in there and do not worry until having second opinions, or a real diagnosis.

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      anonymous 5 years ago

      Just thought I should update: we received test results back 2 days before xmas and showed and abnormality, Trisomy 18, which causes malformation in several parts of her physical and mental development if she even made it to term less then 10% do the likelihood would be she would die 5-10 days after birth... we decided to terminate the pregnancy right after new years and have been mourning the lose of our Peanut ever since. Not to scare anyone, the chances of this happening is 1 in 6000 to 8000 we were just that 1...We were lucky we caught it in time most don't find out until they are further along or born which I believe would be even harder to bare. I write this so that all of you know how important it is to get prenatal care, NT scans and if possible CVS testing done by a reputable professional, done correctly the procedure is similar to a pap and pretty painless - MAKE SURE to get a good Dr. The only other good news is that it is not hereditary and the chances of this happening again are even lower, so we will try again and pray for a healthy, normal baby.

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      anonymous 5 years ago

      @anonymous: Wish me luck I have the CVS test schedule for tomorrow Jan 11 I am worried but also ready to get over this I need to know what is going on this thing about not knowing is so hard, I don't think I would have been able to deal with this with all of your support, thank you so much for your answers.

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      anonymous 5 years ago

      @anonymous: Thanks for all the answers I have the CVS test schedule for tomorrow Wednesday, I am nervous but definitely feel better since I have read some of your comments, I will keep you all updated.

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      anonymous 5 years ago

      @anonymous: Maggy, re: above, I just wanted to clarify that the percentage is no longer 2% with a cvs. The Internet says there is a higher risk but it is actually 1% now, the same as an amnio. I was told this by the best consultant in England so there's no doubt.

      Worried mum, just wanted to send a hug and say how strong you must be. Hoping your little one is a fighter xxxx

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      anonymous 5 years ago

      @anonymous: @maggy I had a cvs done, it's a 2% chance of miscarriage, I had it done only bcos I have 2% amniotic fluid so an amnio was not an option I was given, it hurts me but was so worth it, keep hope tho, Ur NT from what I believe is 1.3mm then average, my babies NT is 35mm, she is really poorly & has a 10% chance of survival but she's holding in there. There is a possibility your baby is ok, some stories I have read the NT measurement decreases, you can read some stories on the baby centre website. I wish you all the best, I hope everything works out well for you. I'm 21 & have no history of any major health issues, I'm sure they are looking for chromosomal issues which are not genetic so I believe, my baby has turners which is something that just happens. I no what you are going through, seems like you actually have a good chance of having a healthy baby, the percentage they give is from a computer, the stories on the baby centre website may help you, so many women who have had similar results to you & a good turn out. I wish you all the best. XxX

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      anonymous 5 years ago

      @anonymous: Hi Maggy, I know exactly what you are going through (see my posts below, I won't repeat myself) lol. But just wanted to let you know you will NOT harm your baby by having a cvs. Obviously there is a small risk, and the better your consultant, the lower the risk, but mine took no longer than a minute and as soon as it was done my consultant monitored the baby's heart and said it would be fine. Yes, the cvs is a horrible experience both mentally and physically (some people say it doesn't hurt, I think it's very painful) but its over in minutes if not seconds. The wait is worse but hopefully, like so very many people, you will get good news and find out your baby is perfect. Good luck and please come back and update us xxx

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      anonymous 5 years ago

      I am so worried, I have been crying and upset for the past 2 days, my husband is so worried and we are so glad we found this website, I went for my regular ultrasound at 10 weeks, they found that the NS measures 3.3 mm. I do not have the blood work back but my doctor said I should go to a specialist in Houston to get a CVS done, it is our first baby and we are worried sick that something could be wrong, the doctor said we had a 20% chance of having a problem that seems to high, I am 31 and have no family history of any problems I will keep you updated to see how my blood work comes back and when they schedule me for CVS, I am worried about CVS it sounds like such an invasive test I dont want anything to hurt my baby, any personal experiences with CVS that anyone can share? Thanks everyone

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      anonymous 5 years ago

      I am 12 weeks and went for my NT on Tues where I was told the nuchal was 4.2mm after going crazy and crying my eyes out thinking that my peanut has down syndrome I was scheduled for a cvs which took place today... two days later and the nuchal measured at 3.2mm, this hospital considers 3.5mm and above an issue. We don't get the results of the cvs back for 7 days but was informed that this was a good sign... just wondering how many women have gotten a high number and then have it decrease by so much and what have their result been? Have they come back normal or should I still be pulling all my hair out from anxiety.

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      anonymous 5 years ago

      Hi All, I'm sorry that so many people seem to be going through the same thing since I last visited. Just wanted to update you all further. I had a full heart scan on the baby yesterday at 17 weeks and every inch of baby (including the heart!) is absolutely perfect. The nuchal is 2.8mm which he said is completely normal for this stage and baby is developing very well. Exactly a month ago, I was going through the worst time of my life, was convinced that we were going to lose the baby and preparing myself for the worst. A month on and I know i have a perfect little bubba growing inside me, despite that first risk rating. So please please please don't give up hope because chances are, everything is absolutely fine xxxx

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      anonymous 5 years ago

      Jus a quick update, I went 4 my amnio 2day however they couldn't do it due 2 a lack of amniotic fluid so I had a cvs, my scan showed the bby has fetal hydrops, fluid all over even in the babys stomach, it has gone from 9mm to 35mm, I am devastated! I can't believe it or understand any of it, the babys heart beat is fine but the baby isn't moving, however I will remain positive! I'm still looking 4 answers!

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      anonymous 5 years ago

      All the stories are keeping me positive. I am 23 and I went for my 13 week screening on Thursday and my NT was 3.7mm they said my chances off having a down syndrome baby was high, i got sent for the blood tests now to see if i am a low or high risk. Hoping for the best. Just strange how the dr would just like to tell you keep your options open and an open mind to everything if you having a down syndrome baby. For me there is not any option but to keep my child no matter what. As my husband always say, doesnt matter what God gives us we have to play it. He has never let us down and is always there. We trust in him that everything will be fine with our baby. You are all an inspiration to everyone that is stressing and scared about all the tests, Will keep you updated on my results, hopefully we get it on Monday. Enjoy everyones weekend.

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      anonymous 5 years ago

      @anonymous: Your very welcome. Dont give up hope on your bub. The fact that your baby is still alive in utero at the moment, is miracle enough. The majority of babies with such a high NT do not make it this far. So you have fighter, just like my daughter. Give your child the opportunity to show the doctors.... :)

      My daughter is a beautiful 7.5month old now. I wish I could post a pic on this site. We have had a difficult winter with her getting viral illness', but its Summer here now and she is doing well. A little small (6.2kg), but the happiest most content baby (she is my third child). I feel so blessed to have her she is honestly my miracle. I look at her everyday with love and admiration at my little fighter. I never forget how special she is. She is a little delayed in her gross motor skills (lifting neck etc), but its nothing out of the ordinary, they expect Emilia to catch up after her surgery.

      I am praying for a good outcome for you and your child. Dont give up hope. Feel blessed that your bub is still fighting. Feel blessed to have carried him/her for however long it will be. It will make you a stronger and different person. But someone who has been blessed... Enjoy Christmas and dont dwell on the bad things! Hoping for a christmas miracle for you. :)

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      anonymous 5 years ago

      Thank u so much Jae! Ur story has lifted me, for the 1st time since I had my scan I haven't spent my day crying & stressing, ur story has given me so much hope. Ive been hunting to hear a story whos baby NT fold was measuring 9mm above, ur bloods was normal like mine is, this story has helped & I can't wait for my partner to come home from work so I can share ur story with him! How Is your little miracle doing now?

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      anonymous 5 years ago

      @anonymous: I copied and pasted all my thread here so I hope it worked. We also had a crappy christmas last year waiting on results etc.

      Worried Nov 4, 2010 @ 3:25 am | delete

      i am 26 with two healthy boys. We went into our 12 week ultrasound thinking everything would be perfect . Straight away the sonographer said she didn't like what she was seeing. The baby has a NT of 10mm!!! This is more than I have read anywhere else on any site. The baby also has slight fluid all around its body, not just behind the neck. We opted for a CVS (ouch) and the quick initial test has come back normal (not down, trisomy 13, 18 or Turners). We have to wait two weeks for the final full results. We are going back in three weeks for the full antamony scan which will tell us more. The sonographer couldn't get a good picture of the heart - she said this could be the age of the baby, position etc, or it could be that it is not strong. Any ideas??? My blood work was normal.

      Worried Still Jan 16, 2011 @ 3:49 am | delete

      I just wanted to update what has happened recently. I am now 24 weeks pregnant.

      The full CVS came back normal and said we were having GIRL. We were referred to the specialist who did a heart scan. It turns out our baby girl has a heart problem which is why she had a high nuchal fold.

      She has a condition called "Pulmonary Atresia with Ventricual Septal Defect" (P-A, VSD). It means she has no Pulomary artery, with a hole between two chambers. (The hole is not a problem in itself). The lack of the atery is the major problem. There is no sign of any swelling (NT).

      Without surgery, at birth she will die. In utero she is fine. Best case scenario is she will require 3 surgeries (two open heart), and then lead a fairly normal life.

      Worst case, constant surgeries and eventually her body wont be able to supply herself with enough oxygen and she will pass away. No one knows yet what the likely outcomes will be.

      She will always be small (I am measuring small now), but most children with heart problems are.

      So, we have come a long way since that initial test. We were told it was a matter of time before the baby died in utero, so terminate anyway, but we were adamant we were NOT going to terminate under any situation and we are so glad we didn't. Yes we are in for such a difficult time when she is born and we may lose her, BUT we may end up with a beautifully (relatively) healthy daughter that we always loved and wanted.

      All i can say to other parents out there, is follow through on the results, don't make decisions based on one test result. Give you baby a chance to prove the doctors wrong, and if sadly your baby passes away at least you know you did everything you could to give your baby the best chance! Don't give up hope.

      Less worried. Feb 21, 2011 @ 10:27 pm | delete

      Its me again. I have some even better news. The doctors did another scan at 26 weeks. Now our baby has been diagnosed with tetralogy of fallot - a treatable heart condition, instead of the uncertain PA-VSD. Our little girl will have surgery when born, and then another two. But she has a 95% chance of leading a normal life. Wow! Such a turn around from what we were told at 12 weeks.

      Relived and happy! May 6, 2011 @ 2:54 am | delete

      Our beautiful daughter - Emilia, was born on the 19 of April (36 weeks and 5 days, due to restricted interuterine growth). She had trouble breathing when born and was intubated. She was on medication to keep her duct open. She under went surgery a few days later, spent 48 hours in ICU. And now, two and half weeks later..... is HOME!!!! She is doing fantastic! Such a little fighter and so brave! She is small, but is slowly putting on weight. We are so happy to have her home! When Emilia is about one, she will need another surgery on her heart, but until then we are so happy to have her healthy and home!

      The Happy ending Jul 19, 2011 @ 2:43 am | delete

      I am still receiveing updates when people post on this forum and it breaks my heart to read some of the endings people have chosen. Has my story not showed you how different things can be. My daughter had a NT of 10mm (that is more than 3 times what people are worried about on this site). My daughter now is 3 months old and is so beautiful and healthy. We have had no regrets and we feel so blessed that we have this "miracle" baby. PLEASE GIVE YOUR BABY THE CHANCE TO PROVE THE DOCTORS WRONG, mine did!! Don't terminate because you are scared of being hurt, the alternative - meeting your child and falling in love with them is by far the most beautiful feeling, and even more so if you have been through a hard time with them. Yes, my girl has a heart condition but it is treatable and it makes her even more special to us! I wish for happy healthy outcomes for all of you! x

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      anonymous 5 years ago

      @sophiea1404 thank u, I googled him, he works @ St Georges hospital, so I'm considering whether I should get a transfer from my Gp, St Georges hospital is a hour away from were I live. My mum n gran has fat necks lol, I hope this is all it is.

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      anonymous 5 years ago

      @anonymous: Worried Mum, I know exactly how you are feeling and I know how it feels to be treated like you're an idiot... I'm also 21... but to help you with the CVS/amnio decision... I saw the best fetal medicine consultant in the uk, he is called Basky Thilaganathan (you can google him) and he said it is a complete myth about a CVS being higher risk than an amnio... they are EXACTLY THE SAME risk and even then, it is worth it for peace of mind. Also, an amnio is very late, at least with a CVS it is done early enough to make any decisions that you want to. Please keep us updated... I know what a horrendous time you are going through, but there is every chance your baby will be perfectly healthy (and born with a big fat neck lol) xxx

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      anonymous 5 years ago

      @anonymous: Is your thread on here? I can't find it, can u post a link? I feel alone in this, being only 21 friends & family don't no what to say, everybody has all of a sudden become distant, this site is my only way of expressing myself & hearing other stories, I have not slept in nearly a week now, I find it hard to pick myself up, my amnio isn't until 23/dec what a great Xmas I will hve worried out of my mind, my 20week scan isn't until the day before my 22nd birthday, I feel as if I'm being punished for something, I try to b a gd person, Im the type of person who will give my clothes off my back n the last pound in my pocket to someone who needs it more. Even with my partners comforts I still feel alone.

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      anonymous 5 years ago

      I had to come back and give an update. I posted here around 7 months ago, confused and scared about my sons nuchal fold. They had measured a 9mm at my 20 week ultrasound. I didn't know what this was. I have two other children and this measurement was the first I ever heard of. At my 32 week, they said his fold was 7.5, he had a club foot and possibly an obstruction in his bowels (atresia) which is associated with down syndrome and the baby, at birth, would need to be taken into surgery asap. Of course my husband and I prepared for the worst and our hearts sank as we considered telling family and friends. But we decided to wait, pray and try to stay positive. On 9/26 I gave birth to a healthy, beautiful boy with no problems. We did notice a birth mark on his right foot, the same foot the Dr. said would be effected. It looks like a fingerprint. I'd like to think the mark is a reminder that Dr's, tests and statistics are do not have the final say! To all on here experiencing the pain of not knowing, I pray for you all but please keep your faith...it's a powerful thing.

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      anonymous 5 years ago

      Worriedmum - I'm hoping for the best for you. Sending lots of hugs your way.

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      anonymous 5 years ago

      Worriedmum - I'm hoping for the best for you. Sending lots of hugs your way.

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      anonymous 5 years ago

      @anonymous: Worried Mum, my daughters skin fold was 10mm! I have a thread on her if you want to read it. Its from "worried" dated Nov 2011. Pls read it, so it can give you hope. I understand your feelings of hurt, dread and anxiety. Hoping for a good outcome for you.

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      anonymous 5 years ago

      I am 21 years old n worried to death, I went for my 1st trimester screening on Tuesday anxious to see my Lil bundle of joy playing n rolling around, as I watched on the screen my Lil baby was jus laying there as if s/he was jus chilling on the beach, I watched the lady scanning me measuring all the stuff their supposed to but I noticed she was spending alot of time looking at this blue and red spots on the screen, I also noticed she was spending alot of time listening to the heart beat, at 1st I didn't think n e thing could possibly b wrong, I started to pay more attention to the heart beat n their was Lil gaps in between beats, the lady didn't say a word to me for the whole duration of the scan other than am I ok. She then told me to wait outside for 20mins, as I already have a lil 1 I knew this was not normal, so I had to ask her why, she than told me my bundle of joy skin fold was measuring 9.90mm. I cried my heart out in the middle of St Thomas hospital, after 10mins she called me and told me my bloods was fine, but my chances for Edwards is 1:18 for trisomy 21 1:102 & trisomy 13 1:96 my babies heart beat was 148bpm...she then said she wouldn't advise the CVS because of the risks but I should have an amnio done, she then went on to offer counselling, which is in 3weeks, I have been such as state, I ask myself all the time 'y me?' I don't understand anything, doctors are not telling me much, Mayb because I'm young their treating me like a child? I have red inspiring stories on the Internet but no mothers NT was as high as mine, I spend my hours on google trying to find that mother who has had a great outcome with such high NT results, I mean normal bloods but thick fold...it doesn't make sense...some one please help :-(

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      Milkwood 5 years ago

      @anonymous: This seems to be such a common occurance. We went for a nuchal scan at 14 weeks with blood tests as well. Our nuchal fold measurement was 4.1mm and the proteins in the blood were high so we were told we had a 1:2 chance of a baby with either Down Syndrome or some other defect. We then had a cvs to get cells off the placenta. After the most awful 5 days the results came back fine but they picked up that he had a Robertsonian Translocation. We both had our blood tested and it turns out my partner is a carrier of this. After more very long anxious weeks when the babies cells were sent to the UK to grow the dna and check to see that there were no duplications or too much or too little genetic material. These results also came back fine so finally now at 21 weeks can I first start to actually enjoy being pregnant and plan for the future. I do believe that they put way too much science into this now and look too hard for problems. At 17 weeks we were also told he had a hole in the heart but that fixed itself. To be honest all of this took the joy and excitement of being pregnant away and if we had just let it be and not tested for anything we would have been much happier and he would have been perfect in the end. Saying that it was our decision to get tested as I am 36 and wanted to rule out the chance of a Down Syndrome baby so it is just a decision one has to make and deal with the consequences. But to all the woman out there take heart in all these postings that of all the first positive results they all seem to work out right in the end.

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      anonymous 5 years ago

      I just wanted to share my story, as I found this website when I was waiting for CVS results and it kept me going:

      We went to the hospital for our 12 week scan thinking everything would be perfect. We were told that the nucal measured 3.6mm which was above average. We were understandably devestated that something could be wrong with our baby and it was not even something that I was aware of, let alone understood. We promptly booked a scan at Harley Street... at first because we didn't trust my local hospital but with hindsight probably a little bit of wishful thinking. Unfortunately, we went to Harley Street and were told the nuchal was measuring at nearer 5mm. We booked in for a CVS that afternoon, also in Harley Street, and would have the results within 3 days (expensive, but priceless at a horrendous time). The man who did my CVS is the best in the country. He told me that there is NO additional risk with a CVS compared to an amnio and those stats are now out of date. He also remeasured my nuchal at 3.4mm and 3.8mm. It depends very heavily on how baby is laying and is definitely not yet an exact science.

      With my blood results, nasal bone (which is not yet used on the NHS) and nuchal measurement, I was given a risk of 1 in 67 (compared to 1 in 31 given to me by the NHS hospital!!!!) I worried myself sick for days, convinced that it couldn't possibly be good news... I couldn't understand why we would have to go through this hell if there was going to be a happy outcome.

      I'm very pleased to say that today, we were given the good news that my CVS has come back clear. We are still waiting for the final results and a heart scan but the consultant has already told us everything should be fine now and our risk is as good low as everyone elses.

      I just wanted to share my story and give others hope because I know what an absolutely horrendous time it is and it is an experience I will never ever forget. Please do not search for reasons for an increased nuchal... sometimes, it just is larger, and this is the one thing the doctors fail to tell you.

      xxx

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      anonymous 5 years ago

      Hi everyone- I wanted to update you all... I found this website back in April, when I went for my 12 week NT ultrasound when they told me the baby's nuchal fold was 4.0 mm. That day I talked with a genetic counselor and she gave us the most negative news and pretty much prepared us for the worse. So my husband and I decided to have a CVS done that day. We waited an agonizing 2 weeks for the results, to find out we were having a second son and he was fine.

      We had to have numerous ultrasounds around 22-24 weeks to check the anatomy and heart of the baby... All was good! On Nov. 1, 2011, I gave birth to a healthy, beautiful baby boy, who I can't imagine my life without.

      If you come across this website going through what I had 7 months ago, please know that nothing is set in stone and despite all the negative stuff the health care professionals tell you, you're baby just might be okay and healthy. I wish you all a healthy and happy pregnancy!

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      anonymous 5 years ago

      @ScaredandConcernedmomma: Thanks so much for sharing your experience. I am 12 weeks pregnant and my baby measured at 2.8 to 2.9. The specialist did a great job at trying to scare me and strongly pushed me to take the MaterniT21 test even before getting my blood results back. But, after reading your experience, I now have some peace of mind and will wait to see those results before jumping into another costly test. Thank you!

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      anonymous 5 years ago

      (from a father) to all expectant mothers out there, beware of the early screening!

      we went into the testing knowing we wouldnt terminate unless it was severe enough defect to result in a horrible, short life for the child. but, we still wanted to know if there was a genetic abnormality so that we could prepare properly, while still having the baby (she is only 36 but AMA)

      counselor explained stuff when we came in, gathered data, etc, took blood samples, told us nt above 3.5 is high risk, and blood test results would be back in 2-3 days, and said presence of nasal bone is a very good sign there is not Down's syndrome.

      during the ultrasound, the tech had a difficult time due to the fetus not being positioned properly for measurements. eventually I saw her measure a 2.8 and a 3.1, which is higher than we would like, but not in high risk. she then brought in who I assume is her boss, who proceeded to spend not more than 30-60 seconds taking her own measurements of 3.2 and 3.4, then told us we were high risk because we were over 3.0 and asked if we wanted a procedure asap to confirm. she didnt discuss risks with us, didnt go over options, she just tried to scare us into getting another test immediately. we asked about waiting for blood work, and she said it might not be back for a week! and then said our window for the test was closing and we might not be able to do it if we waited! obvious scare tactic!

      well, it worked on my wife, but we do both work in the medical profession, so we decided to wait for bloodwork results and left.

      2 days later, we get bloodwork results and a different counselor tells us our odds are 1/13 for down's (the others were basically ruled out). she asks if we want to schedule an invasive procedure. I ask tons of questions and finally get the real results. I said I'll discuss with my wife and get back with her. She's obviously not happy that I didnt jump at scheduling a procedure, and immediately calls my wife! she says "if you sat in a room with 12 other moms and I told you all that one of you would have a kid with down's syndrome would you get tested?" what complete BS! she was only trying to scare her into getting an unncessary procedure.

      blood work was perfectly normal. nt was high range of normal.

      finally getting details, the risk looking at bloodwork+age alone was 1/223, nt+age was 1/12, so combined was 1/13?! I told the actual values and plugged them into a different calculator and got 1/200-something!

      the tests can be useful to identify if you're high risk or not, but please keep in mind that many of these centers are also businesses and it seems part of their job is to try to scare expectant mothers into getting unncessary tests so that they make money and stay in business.

      I encourage everyone to get as much detail as they can from their test results and do their own research and make their own decisions. peace of mind is valuable, but amnio and other procedures have risk as well (miscarriage) you need to consider.

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      anonymous 5 years ago

      (from a father) to all expectant mothers out there, beware of the early screening!

      we went into the testing knowing we wouldnt terminate unless it was severe enough defect to result in a horrible, short life for the child. but, we still wanted to know if there was a genetic abnormality so that we could prepare properly, while still having the baby (she is only 36 but AMA)

      counselor explained stuff when we came in, gathered data, etc, took blood samples, told us nt above 3.5 is high risk, and blood test results would be back in 2-3 days, and said presence of nasal bone is a very good sign there is not Down's syndrome.

      during the ultrasound, the tech had a difficult time due to the fetus not being positioned properly for measurements. eventually I saw her measure a 2.8 and a 3.1, which is higher than we would like, but not in high risk. she then brought in who I assume is her boss, who proceeded to spend not more than 30-60 seconds taking her own measurements of 3.2 and 3.4, then told us we were high risk because we were over 3.0 and asked if we wanted a procedure asap to confirm. she didnt discuss risks with us, didnt go over options, she just tried to scare us into getting another test immediately. we asked about waiting for blood work, and she said it might not be back for a week! and then said our window for the test was closing and we might not be able to do it if we waited! obvious scare tactic!

      well, it worked on my wife, but we do both work in the medical profession, so we decided to wait for bloodwork results and left.

      2 days later, we get bloodwork results and a different counselor tells us our odds are 1/13 for down's (the others were basically ruled out). she asks if we want to schedule an invasive procedure. I ask tons of questions and finally get the real results. I said I'll discuss with my wife and get back with her. She's obviously not happy that I didnt jump at scheduling a procedure, and immediately calls my wife! she says "if you sat in a room with 12 other moms and I told you all that one of you would have a kid with down's syndrome would you get tested?" what complete BS! she was only trying to scare her into getting an unncessary procedure.

      blood work was perfectly normal. nt was high range of normal.

      finally getting details, the risk looking at bloodwork+age alone was 1/223, nt+age was 1/12, so combined was 1/13?! I told the actual values and plugged them into a different calculator and got 1/200-something!

      the tests can be useful to identify if you're high risk or not, but please keep in mind that many of these centers are also businesses and it seems part of their job is to try to scare expectant mothers into getting unncessary tests so that they make money and stay in business.

      I encourage everyone to get as much detail as they can from their test results and do their own research and make their own decisions. peace of mind is valuable, but amnio and other procedures have risk as well (miscarriage) you need to consider.

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      anonymous 5 years ago

      (from a father) to all expectant mothers out there, beware of the early screening!

      we went into the testing knowing we wouldnt terminate unless it was severe enough defect to result in a horrible, short life for the child. but, we still wanted to know if there was a genetic abnormality so that we could prepare properly, while still having the baby (she is only 36 but AMA)

      counselor explained stuff when we came in, gathered data, etc, took blood samples, told us nt above 3.5 is high risk, and blood test results would be back in 2-3 days, and said presence of nasal bone is a very good sign there is not Down's syndrome.

      during the ultrasound, the tech had a difficult time due to the fetus not being positioned properly for measurements. eventually I saw her measure a 2.8 and a 3.1, which is higher than we would like, but not in high risk. she then brought in who I assume is her boss, who proceeded to spend not more than 30-60 seconds taking her own measurements of 3.2 and 3.4, then told us we were high risk because we were over 3.0 and asked if we wanted a procedure asap to confirm. she didnt discuss risks with us, didnt go over options, she just tried to scare us into getting another test immediately. we asked about waiting for blood work, and she said it might not be back for a week! and then said our window for the test was closing and we might not be able to do it if we waited! obvious scare tactic!

      well, it worked on my wife, but we do both work in the medical profession, so we decided to wait for bloodwork results and left.

      2 days later, we get bloodwork results and a different counselor tells us our odds are 1/13 for down's (the others were basically ruled out). she asks if we want to schedule an invasive procedure. I ask tons of questions and finally get the real results. I said I'll discuss with my wife and get back with her. She's obviously not happy that I didnt jump at scheduling a procedure, and immediately calls my wife! she says "if you sat in a room with 12 other moms and I told you all that one of you would have a kid with down's syndrome would you get tested?" what complete BS! she was only trying to scare her into getting an unncessary procedure.

      blood work was perfectly normal. nt was high range of normal.

      finally getting details, the risk looking at bloodwork+age alone was 1/223, nt+age was 1/12, so combined was 1/13?! I told the actual values and plugged them into a different calculator and got 1/200-something!

      the tests can be useful to identify if you're high risk or not, but please keep in mind that many of these centers are also businesses and it seems part of their job is to try to scare expectant mothers into getting unncessary tests so that they make money and stay in business.

      I encourage everyone to get as much detail as they can from their test results and do their own research and make their own decisions. peace of mind is valuable, but amnio and other procedures have risk as well (miscarriage) you need to consider.

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      anonymous 5 years ago

      @cristina71: Hi Christina71, I was 30 at the time of being pregnant so not particularly in the category where age increases the risk, that's why we were so concerned. Forgive me for the delay in my response and also if you have since posted but how did your CVS go? I wish you all the best!

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      Milkwood 5 years ago

      I turned 36 a week ago and had my NT scan done on thursday. I am 13+5 weeks pregnant. The results of the NT were 4.2mm and my bloodwork came back as normal PAPP-A but elevated Hcg. She gave me a risk of 1:2 of DS or some other genetic disroder. Trisomy 18 and 13 were fine. We opted to do a CVS straightaway and then had to wait 5 days for the result. The result from the CVS came back clear which was a huge relief. We have a follow up scan booked on 01/11 so am hoping all will be looking good!!

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      anonymous 5 years ago

      @anonymous: Hi Suz

      if you get this message hope everything worked out fine! and all your tests were back normal..wish you good luck for future!! I am 31 too and went for a nuchal scan. scan went well but blood reports are back stating as high risk with a 1/39 for DS. I am scheduled for amnio in two weeks and am very nervous about the future!! Please keep me in your prayers!! I will try to update at the end of month with the results (hoping they are good)

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      cristina71 5 years ago

      @anonymous: hi lisa, your story is sooooo inspiring to me....i had a NT scan of 5mm at 12 w and 2 days last week and I am waiting for the CVS results anxiously!!! thank you for sharing your story!!! i wanted to ask you....how old are you? i m going to be 40 when i give birth and my doctors tell me that puts me at an even higher risk!!! I am so anxious!!!

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      cristina71 5 years ago

      @ScaredandConcernedmomma: Oh my God, thank you so much for sharing your story....I am a 39 years old who had an NT scan of 5mm last week. I did the CVS and I am waiting for the results....my doctor said I have 20%-30% chance of having a child with DS and 10%-15% change of having CHD. I am scared to death....one day I am positive and another expecting the worst....your story has given me a lot of hope!! thanks so much!

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      anonymous 5 years ago

      I am 31 and just went to my 12 week ultrasound today. We received the news that our baby has a nuchal of 3.51. The genetic counselor said that it is "most likely" that the baby has DS at the very least. Reading these posts, I'm thrilled to hear so many positive outcomes, but I can't help but worry that we are going to fall into the category that does not get the happy ending. Plese keep us in your prayers, and thank you for all of the encouraging stories.

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      ScaredandConcernedmomma 5 years ago

      I am writing this for anyone that might read this and be suffering from the horrible anxiety and fear my husband and I did when we were told unborn child had an abnormal nuchal scan at 12 weeks. In September of 2010 I had my first sonogram, the 12 week nuchal scan. I had no idea what a nuchal actually was, we were just excited to be pregnant and go see what our little bean had turned into on the ultrasound.When we first saw our baby, we were thrilled to see it had formed with two arms and legs and was moving all around, I cried in excitement. We had no idea that our baby had exactly the abnormality the test was looking for and that we were about to face our worst nightmare.

      We met with a genetic counselor after the test who made us feel like our entire world had just caved in. She told us we had 1 in 103 chance the baby had downsyndrome or 1 in 800 (I think) of trisomy. She then told us this thick nuchal could also possibly be a sign of a chromosomal abnormality, heart defect, or "structural defect"-- which could be any wide range of defects that she went on to list as we sat there in disbelief. I didn't know what to think of any of this and my mother, who came to the test with my husband and I, and I just sat there and cried our eyes out. My husband just stood in utter shock. It was the single worst moment of my life. The genetic counselor went on to talk about a horrifying disease called "Noonans" that she recommended we take a very expensive test for and even continued to tell us that our baby could be born with some sort of hump out of it's neck. The problems went on and on. After listening to her go on for over an hour with all the potential dangers of the test, we asked her just how accurate the test was. She fumbled with same papers and found a statistic that basically said with our numbers (a 4.4 inch thick nuchal) 70% of the time the babies were healthy. At this point I was completely confused. She had acted like we were destined to have a baby with some terrible defect and now she was telling us 70% of the time the babies were perfectly healthy. I was so confused, but at least felt some hope. I couldn't understand why this wasn't the very first statistic she would have given me. That being said, we immediately took the CVS test because I needed some immediate answers as to the state of my baby and then all we could do was wait.

      After leaving I immediately phoned a friend hysterically, and she put me in touch with a high risk doctor on Staten Island. When I got home that night I researched everything I could on the internet and was even more confused. It seemed that everyone had different information about this test and its accuracy and many people were saying that they had perfectly healthy babies after this test. It gave me a small sense of hope that the genetic counselor certainly took away from me but I was still scared to death and couldn't put my encouter with the genetic counselor out of my head.

      The high risk doctor in Staten Island I visited gave me a completely different outlook. He basically said with this test, 50% of the time the fluid in the neck that causes the thick nuchal fold is transient and the fluid drains and the babies are perfectly healthy. 30% of the time it's a sign of a chromosomal defect, and 20% of the time it's a heart defect (which could be something as small as a tiny whole in the heart that a baby could very easily live with and repair on its own as the baby gets bigger). He said saw no reason for the Noonans test and basically that we would have to get through a bunch of tests over the next few months to know for sure the state of our baby. Within days we got the results back of the CVS, our babies chromosomes were normal! Now we had an 80% chance of a healthy baby.

      The next several weeks and basically entire second trimester was complete agony for me. I was constantly a ball of stress and consumed by fear for my baby. We made it the 16 week early anatomy scan and were given promising feedback when they couldn't find anything wrong with the baby. Then next we waited anxiously for the 20 week so they could begin looking at the heart for any heart defects. Nothing, our baby was looking wonderful. Finally at 23 weeks we did the fetal echocardiogram with one last look a the baby. At this appointment the we were told that they couldn't find anything wrong with the baby and that at this point we were back in the with the normal population and our chances of having a baby with something wrong would be just as much as anyone elses (I believe 4 percent.) We were beyond ecstatic. I cried tears of happiness but yet still was consummed with fear the rest of my 9 months because I could not forget that horrible test and all those fears the genetic counselor had put in my head. Sure enough at 9 months, out came the most amazing, and HEALTHY, beautiful and perfect baby boy I could ever have dreamed. Anthony is now 5 months and I look at him every day and thank god for giving us him and am so thankful I didn't give up on my pregnancy early on as I sometimes considered during the weeks of tourment prior to the tests.

      For anyone out there that is experiencing what I went through right now, please know you are not alone. Please also know that there is a VERY good chance that your baby will be completely fine (50% if that last doctor was correct). I'm not saying not to worry because of course you are going to, but have faith in your baby, pray and try to just take it one day, one test at a time. The nuchal test is still very new and I think they still have a lot to learn. You can't base everything off this one test. I have since heard of two other people that have also had a thick nuchal fold sonogram and both have had perfectly healthy babies as well. Hang in there, be strong, and best of luck to you!

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      ScaredandConcernedmomma 5 years ago

      @anonymous: I am writing this for anyone that might read this and be suffering from the horrible anxiety and fear my husband and I did when we were told unborn child had an abnormal nuchal scan at 12 weeks. In September of 2010 I had my first sonogram, the 12 week nuchal scan. I had no idea what a nuchal actually was, we were just excited to be pregnant and go see what our little bean had turned into on the ultrasound.When we first saw our baby, we were thrilled to see it had formed with two arms and legs and was moving all around, I cried in excitement. We had no idea that our baby had exactly the abnormality the test was looking for and that we were about to face our worst nightmare.

      We met with a genetic counselor after the test who made us feel like our entire world had just caved in. She told us we had 1 in 103 chance the baby had downsyndrome or 1 in 800 (I think) of trisomy. She then told us this thick nuchal could also possibly be a sign of a chromosomal abnormality, heart defect, or "structural defect"-- which could be any wide range of defects that she went on to list as we sat there in disbelief. I didn't know what to think of any of this and my mother, who came to the test with my husband and I, and I just sat there and cried our eyes out. My husband just stood in utter shock. It was the single worst moment of my life. The genetic counselor went on to talk about a horrifying disease called "Noonans" that she recommended we take a very expensive test for and even continued to tell us that our baby could be born with some sort of hump out of it's neck. The problems went on and on. After listening to her go on for over an hour with all the potential dangers of the test, we asked her just how accurate the test was. She fumbled with same papers and found a statistic that basically said with our numbers (a 4.4 inch thick nuchal) 70% of the time the babies were healthy. At this point I was completely confused. She had acted like we were destined to have a baby with some terrible defect and now she was telling us 70% of the time the babies were perfectly healthy. I was so confused, but at least felt some hope. I couldn't understand why this wasn't the very first statistic she would have given me. That being said, we immediately took the CVS test because I needed some immediate answers as to the state of my baby and then all we could do was wait.

      After leaving I immediately phoned a friend hysterically, and she put me in touch with a high risk doctor on Staten Island. When I got home that night I researched everything I could on the internet and was even more confused. It seemed that everyone had different information about this test and its accuracy and many people were saying that they had perfectly healthy babies after this test. It gave me a small sense of hope that the genetic counselor certainly took away from me but I was still scared to death and couldn't put my encouter with the genetic counselor out of my head.

      The high risk doctor in Staten Island I visited gave me a completely different outlook. He basically said with this test, 50% of the time the fluid in the neck that causes the thick nuchal fold is transient and the fluid drains and the babies are perfectly healthy. 30% of the time it's a sign of a chromosomal defect, and 20% of the time it's a heart defect (which could be something as small as a tiny whole in the heart that a baby could very easily live with and repair on its own as the baby gets bigger). He said saw no reason for the Noonans test and basically that we would have to get through a bunch of tests over the next few months to know for sure the state of our baby. Within days we got the results back of the CVS, our babies chromosomes were normal! Now we had an 80% chance of a healthy baby.

      The next several weeks and basically entire second trimester was complete agony for me. I was constantly a ball of stress and consumed by fear for my baby. We made it the 16 week early anatomy scan and were given promising feedback when they couldn't find anything wrong with the baby. Then next we waited anxiously for the 20 week so they could begin looking at the heart for any heart defects. Nothing, our baby was looking wonderful. Finally at 23 weeks we did the fetal echocardiogram with one last look a the baby. At this appointment the we were told that they couldn't find anything wrong with the baby and that at this point we were back in the with the normal population and our chances of having a baby with something wrong would be just as much as anyone elses (I believe 4 percent.) We were beyond ecstatic. I cried tears of happiness but yet still was consummed with fear the rest of my 9 months because I could not forget that horrible test and all those fears the genetic counselor had put in my head. Sure enough at 9 months, out came the most amazing, and HEALTHY, beautiful and perfect baby boy I could ever have dreamed. Anthony is now 5 months and I look at him every day and thank god for giving us him and am so thankful I didn't give up on my pregnancy early on as I sometimes considered during the weeks of tourment prior to the tests.

      For anyone out there that is experiencing what I went through right now, please know you are not alone. Please also know that there is a VERY good chance that your baby will be completely fine (50% if that last doctor was correct). I'm not saying not to worry because of course you are going to, but have faith in your baby, pray and try to just take it one day, one test at a time. The nuchal test is still very new and I think they still have a lot to learn. You can't base everything off this one test. I have since heard of two other people that have also had a thick nuchal fold sonogram and both have had perfectly healthy babies as well. Hang in there, be strong, and best of luck to you!

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      anonymous 5 years ago

      @anonymous: hey keep us posted on how it goes and best of luck to you Suz!

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      anonymous 5 years ago

      one more thing...Alice, you asked how to make the site better? Almost none of the links you provide work or lead to the publication you refer to. If you could fix that it would be great! Thanks!

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      anonymous 5 years ago

      my NT result was 3.8mm at 12 weeks (bloods showed 1/90 for DS)- we were told we had a 1/4 chance of having a baby with a chromosonal or heart defect. I had CVS, FISH microarray, SMA, QUAD, AFP, fetal echocardiogram (at 20 wks), 16 wk ultrasound & 20 wk ultrasound and everything came back completely normal- my ob said the NT test is a screening test to identify if further testing is needed, but it does not mean something is definetly wrong as it is not a diagnostic test- our doctors assured us based on our nt msmt and all tests coming back normal, this pregnancy is at no higher risk than that of a normal pregnancy- i am now going to enjoy the remainder of this pregnancy and try not to worry- i wish you all the best

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      anonymous 5 years ago

      @anonymous: my NT result was 3.8mm at 12 weeks (bloods showed 1/90 for DS)- we were told we had a 1/4 chance of having a baby with a chromosonal or heart defect. I had CVS, FISH microarray, SMA, QUAD, AFP, fetal echocardiogram (at 20 wks), 16 wk ultrasound & 20 wk ultrasound and everything came back completely normal- my ob said the NT test is a screening test to identify if further testing is needed, but it does not mean something is definetly wrong as it is not a diagnostic test- our doctors assured us based on our nt msmt and all tests coming back normal, this pregnancy is at no higher risk than that of a normal pregnancy- i am now going to enjoy the remainder of this pregnancy and try not to worry- i wish you all the best

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      anonymous 5 years ago

      I cannot tell you how happy I am I found this page! I had a 2.8 reading on one of my twin fetuses and am going in for a 16 week scan and eco thurs and am very nervous. The thing is, I don't want an amnio..risk of miscarriage for twins is 3.4% with amnio which is way higher than my combined risk right now. But all these explanations of why an NT can be higher than normal that have nothing to do with abnormalities is just really reassuring.

      Waiting is hell and I feel the first trimester test is super hell. Also, I had the combined test done at 3 different places and all 3 had very different results so I am beginning to feel the whole thing is suspiciously off!

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      anonymous 5 years ago

      I am a 31 yrs. old, and I went for my scan at 12wks 4days. The nuchal translucency was 3.5mm. I was told that I have a 75% chance that there will be a chromosomal problem with the baby. I then went for a CVS, and still awaiting the results. The waiting is absolutely killing me. I am so nervous. I haven't been able to tell anyone because I can't even talk about it. This site was really helpful, I just wanted to know what my odds are. I will be keeping all of you in my thoughts, wish me luck!

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      anonymous 5 years ago

      update: Ontario, Canada

      I'm 24 yrs old, did the first u/s at 13 weeks, said baby had 7.2mm, went for a second u/s at 15 weeks just in case got a natural miscarriage as that did not happen. Went for an amnio at 16 weeks and 2 weeks later the result came back normal all 46 chromosomes, at 19 weeks I went for a scan (anatomy) (August 30, 2011)and everything is growing normal, saw the genetic and she said the N/C has been the same from 15 weeks at 8mm. The next day I went for an echocardiogram to measure the heart and the heart is normal. I'm exactly 19 weeks and 4 days. I also went for some more blood test on august 30, 2011 as I have alpha thalassemia to see if that's the cause for the high n/t of 8mm. The partner also got tested too and they are looking at that DNA (gene). I believed if you are offer the test, go with it and have a piece of mind once you know what your expecting, rather than a surprise attack. Personally I would recommend the amnio as it's a very reliable test and if the results come back negative, to me I would not carry on with the pregnancy and that's just me, sorry if I have oftened anyone but don't take things to heart based on other people opinion. Well good luck to all you expected mother and I am very excited with this pregnancy. This will be my second pregnancy and it'll be my last. I have an adorable girl that's 19 months old and this baby is a boy, I'm looking forward to meeting him in January of 2012 as that's my due date. Don't stress yourself out and just relax, the more you stress the more it harms your baby and your health, just relax take it easy, there's nothing else you can do until you know the results and the waiting is a killer but relax and pray that everything will be alright. Best of luck expected mother and take care. :)

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      anonymous 5 years ago

      I'm coming back for another update to my August 5 post. I had my level 2 u/s today at 17w5d and the baby looks perfect! All organs are functioning well and there are no other markers for Down syndrome or Trisomy 18. Baby girl is measuring exactly right on for dates. The doctor asked again if I'd like an amnio, but I refused as I feel pretty confident that she's a strong, healthy baby. I'll come back to update again at the end of the month when I have another u/s to show the heart in more detail.

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      anonymous 5 years ago

      quick update : i posted 6 month ago after my nt was 6mm and they told me i have 75% bad outcome .did cvs normal 16 week u/s normal fetal echo:normal and 5 more ultrasound all shows normal active fetus. i was still scared that something might popped out at birth .i gave birth 2 days ago to a wonderful healthy handsome baby boy ever .that he just A little EXTRA SKIN IN HIN NECK that noone notice it exept for me.i ask 2 pedietrician to check on him thank god everything was normal i wish that outcome to everybody realy since i did not enjoy my pregnancy at allll .i switch doctors since i coulgnt stand the negativity of the first high risk anf obgny .the other one was much better and reassuring after cvs normal

      thank goddddddd every second

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      anonymous 6 years ago

      Please read this if your nuchal scan was taken before week 11: At 10 weeks and 3 days I was told that my baby might have serious genetic problems since NT was 3.5 mm. I can not describe the anxiety I went through the following days. We went for another reading at week 11 day 2 at a different clinic, measurements were 1.1 mm (normal range). Bottom line: Do not trust results before week 11, we were told the baby's lymphatic system is not developed so fluid is accumulated. Do not trust a single tech or doctor, since many mistakes are possible. In our case: The incorrect measurement was taken from the amniotic sac and the baby was not in absolute profile (saggital view) but inclined. For all of you that are going through similar situations I can feel your pain and wish you the best.

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      anonymous 6 years ago

      I am new to this but i guess we all share the same concerns. I am 37 years old (as of a week ago) and had my 12 week ultrasound last week. My NT was 2.8mm. My dr. said based my age and higher than average NT number.. I need to do an amnio in 2 weeks. This has been awful...the wait is killing me! Everything else was normal on my u/s. I am waiting for the scores on my blood....going to be a long few weeks ahead!

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      Colorado1234 6 years ago

      What is worse? To terminate a healthy baby or raise a child with significant disabilities?

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      anonymous 6 years ago

      @anonymous: Angie-

      I feel like I am in the same boat as your are. My odds for a baby with DS was 1/43. The nasal bone was present and my blood work was normal. I am also skipping the other tests and waiting for another scan at 18 weeks. There really is nothing that we can do at this point...it is in god's hands at this point. Best of luck.

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      anonymous 6 years ago

      @anonymous: Angie-

      I feel like I am in the same boat as your are. My odds for a baby with DS was 1/43. The nasal bone was present and my blood work was normal. I am also skipping the other tests and waiting for another scan at 18 weeks. There really is nothing that we can do at this point...it is in god's hands at this point. Best of luck.

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      anonymous 6 years ago

      I'm updating with my results from the NT and bloodwork from last week. The doctor called to tell me that my risk of Down Syndrome is 1/68 (1.47%) and my risk of Trisomy 18 is 1/29 (3.4%). I don't really understand how they figure the risk for each based on the same information. Anyway, I'm generally pleased with those odds as it's better than what I had been preparing myself for. I'm foregoing the amnio and waiting for the detailed heart scan at 18 weeks (Sept 2) and the anatomy scan at 20 weeks to check for other soft markers. The results of an amnio would not change our course of action with this baby as we already love it and our current children are very attached to it. I'll come back to update after my 16 week scan, where we should find out the gender.

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      anonymous 6 years ago

      @Colorado1234: My doctor just congratulated that my FISH test came back normal when I saw her 4 days after I took the test. Maybe mine thinks the same as yours but just not letting me know so I wouldn't stress out. She's never caution me on anything else, except the high risk for DS. Two weeks ago, I went in for the regular monthly checkup, she just said that I am looking good. I think she meant that the baby's growth is right on target. Even the MFM who I have the scans with told me that everything looks good, no major defects, etc., except for the placenta previa which he thinks that will eventually move up. I am scheduled for another scan in four weeks, to check on the placenta and the baby again. I just pray for everything to be normal, which I do feel that it is. I don't know Dr. Kaiser because I am from Texas; however, some doctors do not offer the 12 week NT test because of the high false positive. My doctor offered the NT and blood screen, but it was optional. I wouldn't have done it, if I knew the amount stress that it had caused. I would have just wait for the 16 weeks QUAD screen test. I hope everything will go well for you.

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      anonymous 6 years ago

      @Colorado1234: My doctor just congratulated that my FISH test came back normal when I saw her 4 days after I took the test. Maybe mine thinks the same as yours but just not letting me know so I wouldn't stress out. She's never caution me on anything else, except the high risk for DS. Two weeks ago, I went in for the regular monthly checkup, she just said that I am looking good. I think she meant that the baby's growth is right on target. Even the MFM who I have the scans with told me that everything looks good, no major defects, etc., except for the placenta previa which he thinks that will eventually move up. I am scheduled for another scan in four weeks, to check on the placenta and the baby again. I just pray for everything to be normal, which I do feel that it is. I don't know Dr. Kaiser because I am from Texas; however, some doctors do not offer the 12 week NT test because of the high false positive. My doctor offered the NT and blood screen, but it was optional. I wouldn't have done it, if I knew the amount stress that it had caused. I would have just wait for the 16 weeks QUAD screen test. I hope everything will go well for you.

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      Colorado1234 6 years ago

      MN11, thank you for your wonderful post. With everything looking so great what is your doctor saying? I think my confusion in my case is that every time something comes back positive the doctors just move on to the next horrible possibility. Yes, our nuchal translucencies were very different and I understand the statistical difference between a 6.2mm and 3.0mm. However, it seems that my doctors think SOMETHING is wrong and I am not getting that same sense from your post. Is your doctor still cautioning that something could be wrong even if all your tests come back normal?

      Hereâs an interesting thought. In Colorado, Kaiser (who has a high customer satisfaction and a strong reputation because they own their insurance, facilities, doctors, labs, etc.) does not offer a 12 week nuchal translucency test. What do they know that we donât?

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      anonymous 6 years ago

      So I went back into the dr. today. She said that I have a 1:43 chance of my baby have DS. My husband and i tried to ask many questions, but I don't think that you can ever really be prepared enough to remember all you want to ask. I did find out that there was a nasal bone present and that my blood work came back at normal levels. So from what I got from the dr. the only indicator was the nuchal fold. I think that the measurement was 3.4. After reading many posts and doing some research, I feel better after finding out that these two things, but feel bad and don't want to be too positive. Is that bad? I am feeling bad thinking that things might actually be ok. After what the dr. has told me, all the things that could go wrong, I feel bad thinking that maybe they made a mistake with me. I don't want to get my hopes up that my baby will be healthy...but just not sure what to think. We decided not to do any invasive testing on the off chance that things are ok and I could miscarry. We are going to do more scans of the baby looking at the heart and other measurements and going to hope for the best. I don't go back to the dr. for 2 weeks and I know that this is going to be the longest 2 weeks ever.

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      anonymous 6 years ago

      @Colorado1234: I totally agree. Glad that they have changed their recommendations and I hope they offered an apology for the stres that their advice has caused. I agree about continuing the tests in order to be prepared if there is something wrong, it's not hurting the Bub so why not be as prepared as you possibly can be, I enjoyed the extra scans simply because I got to see my baby! All the very best with your pregnancy, I hope you can now enjoy it and start to bond with your precious little bundle. All the best.

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      anonymous 6 years ago

      @Colorado1234: Update: I am now 18.2 weeks. After a normal CVS result, I did a scan at 16.3 weeks, everything looks good except that my placenta is partial previa. I hope and pray for it to migrate up away from the cervix so that I can have a VB.

      Colorado1234, my NT (3.00mm) and blood work gave me a high risk (1:12 ratio) for DS, but my doctor did not ask to terminate; however, she recommended CVS or Amnio. I chose CVS for relief. The scan at 16.3 weeks gave more relief. I will be going through more scans to ensure the health of the baby. I do agree with you that farther testings should be done before deciding to terminate base on the high NT results. I hope everything turns out fine for you and all the other people who are on the same boat as us.

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      Colorado1234 6 years ago

      I think the nuchal translucency test is a great idea. The problem is some doctors have turned it into a diagnosis. IT IS NOT EVEN CLOSE TO A DIAGNOSIS. One of the problems with the nuchal translucency studies is that the majority of these babies are terminated before further testing is done. My doctor personally saw 8 nuchal translucencies over 6.0mm last year and 5 were terminated before further testing. One of the studies that the doctors and genetic counselors love to quote is based on a population where more than half of the babies were terminated before any further testing was done. How in the world can that information help me? Bottom line for me is I think all these problems need to be diagnosed for the safety of the baby. Do I need to deliver at a hospital that can care for a cardiac defect? Do I need to educate myself on my childâs special needs? Again the really big problem is that some doctors see a big nuchal translucency and assume termination. This is very wrong and incredibly mean and unnecessary to do parents.

      Update. My second, second opinion was clear. No problems were found. Since my baby was 14w4d at the time of the scan the nuchal translucency can no longer be measured and the baby is too young to rate the nuchal fold (technically it was 3.6mm â well below the 6.0mm range for nuchal folds). All four chambers of the heart are visible and septum looks formed. Two of the doctors that recommend termination have now changed their opinions of my pregnancy. I am still moving forward with genetic testing, organ scan, and echocardiogram at 18 weeks. I am still prepared for the worst but I am allowing myself to feel pregnant. Something I couldnât do for several weeks.

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      anonymous 6 years ago

      @anonymous: Carly-

      I have enjoyed reading your post. I think that I am also in the same boat as you are in...by that I am doing a lot of praying for what the right thing is and like you said leaving it in god's hands. I really hope that everything goes well with your ultrasound.

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      anonymous 6 years ago

      I have another comment to make not directed to anyone specifically but it is about an experience I had at my primary physicians office this week. My primary physician is pregnant, I believe in her 8th month and I went to go see her for a horrifying ear infection that I am now battling, which is even twice as horrible being as though I am pregnant on top of it. At any rate she asked me how the pregnancy was going and I told her my issues that I was facing and she told me that she as an educated doctor, who used to practice OB, declined all the extra tests when the offered them. She is 42 and this is her 4th child. I told her that if I had known what I know now about the agony this tests cause and for some of us unnecessarily I would have declined them as well.

      It really put it all into perspective when I heard that she declined the tests, even though she is 7 yrs older than I am. I have decided that I am done with all these extra tests. I have an ultrasound tomorrow and that is the last of these extra tests.

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      anonymous 6 years ago

      So today I went in for an ultrasound just to check. My dr. really didn't tell me much at my first dr. appt. I didn't know what to expect so my husband didn't come with me. When I got there, I had an ultrasound and waited to talk to the dr. So not ready for what was to come, this is what I remember: I believe that I had a 3.4 nuchal fold at 12w 6d. Basically the dr. told me everything that could go wrong...which really freaked me out to say that it could be normal too. She didn't mention anything about the nasal bone measurement but I know that they did measure this in the ultrasound. So I was just worried about maybe having a baby with DS to now wondering if I am bringing a baby into this world that will live for a short time at all. I am just really confused and more so scared right not. Many post have been very helpful.

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      Colorado1234 6 years ago

      I have my second, second opinion ultrasound today and I canât focus on work so I will post the update from the genetic counselor. We met with him last Thursday and I am STILL trying to figure what value a genetic counselor brings to this situation. To recap my story I had a 6.2 nuchal fold at 12w1d and 3.0 nuchal fold at 13w6d. The complete CVS was normal and no other flags on the numerous ultrasounds have been identified. On Friday I ordered a microarray (rules out 261 genetic syndromes) and Noonanâs panel and they take about 2 weeks to result.

      Can anyone tell me the value of a genetic counselor? First he started the meeting by saying unless we are ready to raise a retarded baby we should terminate (this question did not bring a favorable reaction from my husband). He discussed statistics that did not relate to my case and used a lot of words like probably, likely, higher risk, typically, increased chance, etc. I can find all these words on Google.

      2 hours until the ultrasound. I swear all this anxiety is causing the increased nuchal fold!!!

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      anonymous 6 years ago

      I love this page and I am glad I came across it to read the stories of other people who have tested a lot higher than my 3.2mm @ 12 weeks 3days and they have healthy children. I am now 16 weeks and due to have more blood testing done and an anatomy ultrasound...honestly after this round of doctor's appt's I am done with all the extra stuff. Regardless of what they find, its not going to change anything. Its not like they can go in and fix the problem, if there is any at all. I seriously think a lot of times these doctors put us into information overload which is upsetting and we then agree to have all kinds of tests done. All these tests do is give us piece of mind, they don't help the baby. I'm going to leave it in God's hands and believe everything will be just fine. I was told I have a 7% chance of having a baby with an issues, I'm gonna bet on the other 93% that everything will be just fine.

      Good luck to you all!