If anybody has delivered a baby recently, you would recall that your child’s sample was taken from the heel and sent for a screening test. This test looks for certain rare diseases which if not detected then, can have disastrous sequelae for the baby. And on the better side, if detected in time can help the child lead a normal life with minute lifestyle modifications.
This test is done within 24-48 hours after birth . The diseases that are screened for include congenital adrenal hyperplasia (CAH), congenital hypothyroidism (CH), G-6-PD deficiency (G-6-PDD), galactosemia, and phenylketonuria. These disorders present with serious complications in early neonatal life. Neonate may be normal in the initial few days of life and clinical manifestations may occur later depending on the dietary intake of proteins, carbohydrates, etc. If the test comes out to be positive, then it further tested for confirmation.
- Congenital hypothyroidism is the one of the most common cause of mental retardation in children. If detected on screening, and confirmed on further testing, the baby can be supplemented with thyroxine right from birth, helping him/her lead a normal life.
- Similarly babies suffering from galactosemia cannot stand milk in diet due to an enzyme deficiency in their body. Timely detection followed by diet modification can help the baby.
- Babies with congenital adrenal hyperplasia have reduced levels of cortisol hormone, and can be helped by hormone replacement therapy to prevent crisis
- In G6PD deficient neonates, avoidance of certain triggering factors can prevent life threatening hemolytic episodes.
- Supplementation of enzymes, fat and vitamin can help babies diagnosed with cystic fibrosis in improving their body vitals.
- Phenylketonuria once diagnosed requires a low protein diet, only then is normal physical and mental development possible in children.
So if delivering anytime soon, do get your baby screened for these diseases as a small test can make a big change in your little one’s life.