New Born Screening – Give Your Child a Fighting Chance
What is New Born Screening (NBS)?
It is a screening method to screen newly born infants for genetic/metabolic disorders. This is usually done within the first 3 days after delivery of the baby, wherein a blood sample is taken from the heel of the baby and placed to a special filter paper attached to the newborn screening card which is sent to a New Born Screening Center.
What diseases are being screened by NBS?
In my country (Philippines), the new born screening covers the following diseases namely:
1. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – the enzyme Glucose-6-Phosphate dehydrogenase is an important enzyme in the metabolic pathway of red blood cells. Without this enzyme, red blood cells are prone to lysis/damage and will eventually lead to anemia for the patient. They are usually asymptomatic, but they have a long list of triggers that could clinically manifest the disease. Triggers include your anti-malarias, beans, certain antibiotics, etc. G6PD patients usually have the list with them because they are quite hard to memorize.
2. Congenital Hypothyroidism – as the name implies, this is lack of thyroid hormone which is essential in the growth of the baby. If undiagnosed, your child will eventually have stunted growth and eventually will lead to mental retardation. With early detection, proper treatment could be initiated to prevent the dreadful complications.
3. Congenital Adrenal Hyperplasia – this endocrine disorder causes severe salt wasting, dehydration and an increase in sex hormones. Babies with this condition usually present with ambiguous genitalia. Male babies could present with female organs and vice versa. If left untreated, this condition could be fatal for the baby.
4. Galactosemia – is a metabolic disorder wherein the baby could not process “galactose” a type of sugar usually found in milk. Since the body could not use galactose, it would eventually pile up and lead to liver and brain damage for the baby. Early detection is essential for this metabolic disorder.
5. Phenylketonuria – is a metabolic disorder wherein the baby could not metabolize the amino acid “phenylalanine” due to lack of the enzyme “phenylalanine hydroxylase”. This disease could lead to brain damage and mental retardation if untreated. They usually present with a musty odor either in their sweat or in the urine. Early diagnosis is crucial for this disease.
This are the 5 disease entities being screened by the New Born Screening in my country but the American College of Medical Genetics recommended a long list of disease to be screen in infancy in their 2005 report.
With early detection and prompt treatment these diseases won’t inflict there major complications to your child, giving them a brighter future.