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Anencephaly, A Heartbreaking Tale of Neural Tube Birth Defect

Updated on March 20, 2013

What Is Anencephaly?

First, a little background as I'm sure not everyone is familiar with this birth defect. Anencephaly is classified as a neural tube defect. These are birth defects that affect the tissue that grows into the spinal cord and brain. In anencephaly, a large part of the brain and the skull are absent. Babies diagnosed with anencephaly will also likely have facial feature abnormalities as well as heart defects. There is no current therapy for treating anencephaly in babies. Anencephaly occurs in approximately 1 out of 10,000 births. Although the definite cause is not known, it has been linked to low folic acid levels and/or environmental toxins. Some believe that it may be genetic.

Ultrasound is employed to document fetal heart rate, growth, and fetal anatomy.
Ultrasound is employed to document fetal heart rate, growth, and fetal anatomy. | Source

Early Signs, Symptoms, and Diagnosis

On her third pregnancy, my sister went through the normal early pregnancy testing. Ultrasound, blood work, urine testing, etc... Everything seemed to be going well. Of note, her first pregnancy ended as the result of an incompetent cervix. Second pregnancy gave her a healthy son and me a wonderful nephew who I adore.

Around the 5-6 month of gestation, the doctor said there seemed to a lot of weight gain that could be attributed to extra amniotic fluid. They decided to do an ultrasound to check for polyhydramnios, the medical term for too much fluid in the uterus. It was following this ultrasound that I received a phone call from my tearful brother-in-law saying there was something wrong with the baby. There was an excessive amount of fluid present, and they could see that the baby's head was not forming correctly. They had taken my sister right in for an amniocentesis as they were worried about possible anencephaly.


Amniocentesis is a test performed during pregnancy when a doctor is looking for birth defects and/or genetic problems in the developing baby. Normally an ultrasound is also done in conjunction with this testing to assess the baby's position within the uterus. A long, thin needle is inserted through the abdomen and into the womb. A small amount of fluid is removed from the sac surrounding the baby. Usually the equivalent of approximately 4 teaspoons of fluid is removed. The fluid is then sent to a lab for appropriate testing.

Along with anencephaly, amniocentesis can also diagnose gene and chromosome problems in the baby such as Down syndrome and spina bifida as well as detect Rh incompatibility and infection in the baby.

As with any medical procedure, there are possible complications. Amniocentesis can result in infection or injury to the baby, miscarriage, leaking of amniotic fluid, and/or vaginal bleeding.

Confirming The Diagnosis

The testing came back positive for anencephaly. The doctor as well as a genetic counselor met with my sister and brother-in-law to discuss the situation and the life of their child. Unfortunately, for babies with anencephaly, this is a death sentence. The pregnancies are normally terminated at this point, and the parents will likely go through extensive genetic testing prior to conceiving again.

My sister's baby was diagnosed with a birth defect when she was right around 25 weeks' gestation. Due to regulations set forth by her insurance company and the hospitals where she was treating, terminating her pregnancy was not an option. She was told that she would have to carry the baby closer to full term and then deliver her. I am sure that the sadness and worry that I felt for my sister was nothing near the heartbreak she experienced during this pregnancy.

Maternal Treatment And Birth

Although nothing could be done to treat the baby, my sister needed treatment to make it through the pregnancy herself. During a normal pregnancy, the fetus will swallow amniotic fluid. Babies with anencephaly are unable to do this. She had to go through amniocentesis at least once weekly in order to drain fluid that the baby could not process. The baby continued to grow, and my sister said that she continued to move around inside her womb. The baby was still receiving all the nourishment she needed to grow from the umbilical cord, and her heart rate, while in utero, was regular. As the baby continued to grow and fluid needed to be drained more frequently, my sister and her husband moved into a Ronald McDonald House near the hospital. She stayed there for the last 4 weeks until she was able to have her baby.

After 33 weeks of gestation, the doctors made the decision that it was dangerous to the mother for continuing amniocentesis. My sister was admitted to the hospital and induced. After a few hours of heartbreaking labor, Isabella Grace was born. She was unable to cry, but she stayed with us for about 10 minutes before God welcomed her into his warm embrace. We take solace thinking that our father, who had died of esophageal cancer at the age of 56, was there waiting for his Granddaughter.

Visit to learn more about this birth defect.
Visit to learn more about this birth defect. | Source

Dealing With The Loss

Right away, the nurse placed a beautiful cap on the baby's head to help cover the defects as best she could. The back of the baby's skull had not formed, and the skin around her forehead and eyes was droopy as a result. The parents were allowed to take their baby and wash her off. One of the nurse's who had been taking care of my sister, a true Angel of Mercy, had brought my sister a beautiful dress to put on her baby. They dressed her and wrapped her in a blanket that my husband and I had made for her. There is a program through that particular University Hospital that provided a professional photographer specializing in memorializing babies born with birth defects. I thought all of this would add to the difficulty of the situation, but it has proven to bring some peace. They were absolutely amazing photos that we all treasure. Our precious peanut was cremated a couple of days later, and her ashes remain with my sister.

Just over 2 years ago, my sister delivered a happy, healthy baby girl who joins her brother in being the apples of their Aunt and Uncle's eyes. God is good and gets us through the hard times.

Prevention Of Birth Defects

Unfortunately, not all birth defects can be prevented. There are still no concrete answers as to why some birth defects occur. There are some steps that women can take to try and lower the chance of birth defects with pregnancy. Taking folic acid is a good start. Health care providers indicate that the higher the potential mother's folic acid level is, the lesser the chance of having a baby with birth defects. Mothers should not drink alcohol or take drugs while pregnant or when planning to become pregnant. Sounds like this should be common sense, but as we all know, common sense isn't always common. A comprehensive physical prior to becoming pregnant is always a good idea if a woman is planning to become pregnant in the near future.

DID YOU KNOW?? - The Ronald McDonald House Charities currently operate 322 Houses in 52 countries and regions.


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    • cuttler profile image

      Cuttler 5 years ago from HubPages

      Sad and Touching story and informative all the same. It must be tough to go through such an ordeal :(

      Thank you for sharing this piece of information.


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