Importance of Newborn Screening

After delivery, health care providers recommend that your baby undergo newborn screening tests.   This test is done to detect any metabolic, endocrine, genetic, and hematologic conditions that can affect the growth of your newborn.  Usually, this is done within 24-72 days after delivery.

Common Detected Diseases and Disorders

• PKU: this is a disorder where a baby lacks a special enzyme in metabolizing a protein compound called phenylalanine.  Phenylketonuria results in mental retardation because the absence of phenylalanine hydroxilase leads to the accumulation of phenylketones.  These are toxic substances that destroy brain cells and once the damage is done, it is irreversible.  The condition cannot be cured.  To prevent mental retardation, a milk formula low in phenylalanine is given to the baby.  When the baby grows up to an adult, he must maintain a low-protein diet to prevent brain damage.  The key to help give your baby a normal life later on is early detection.

• Galactosemia: the problem here lies in the metabolism of galactose.  If this compound accumulates in the bloodstream, liver enlargement (hepatomegaly), renal problems, cataracts, and brain retardation results.  If left untreated further, it can cause multiple organ damage, and death.

• Congenital adrenal hyperplasia: regulating hormones produced by the adrenal glands are severely affected.  This results in alteration in the development of secondary sex characteristics of the infant.  Untreated infants eventually die because of loss of salt in the kidneys.

• Biotinidase Deficiency: your baby lacks the necessary enzyme to metabolize biotin, a B-complex vitamin (Vitamin H).  This vitamin is necessary to maintain the nervous system as well as the immune system.  Lack of biotin results in seizures, hearing loss, poor muscle control, mental retardation, and death.  The condition is resolved by giving the baby an extra dose of biotin.

• Sickle-cell anemia: this is a condition where the red blood cells mutate to a shape highly similar to that of a sickle. This greatly alters the oxygen-carrying capacity of the red blood cell, and can also predispose an infant to a variety of infections such as pneumonia and meningitis.

• Maple syrup urine disease: MSUD is condition where your baby lacks important enzymes that help break down three essential amino acids (leucine, isoleucine, and valine) in the body.  The resultant accumulation of these amino acids results in the body producing urine that smells similarly like burnt sugar or maple syrup.  Because these amino acids also leave behind some toxic byproducts, the baby would suffer this condition feed poorly, experience vomiting and dehydration, is lethargic, have poor muscle tone.  Late in the condition, the baby experience coma and even death.

These are the common diseases that are mandated to be tested in the US.  The test is done after 24 hours, or 2-3 days after birth. It is not done immediately for your baby must be significantly fed to detect the presence of any metabolic disorders.  The test is done by pricking the heel of your baby.

Blood is then placed on a sheet of paper that is specifically designed for this test.  Results are relayed to you depending on hospital policy and how fast the laboratory will process the sample.  If disorders are detected, the health care team will inform you immediately and will proceed to do series of calls to specialists for treatment or referral on your baby’s condition.

The diseases and disorders detected in newborn screening are often manageable and curable if detected early.  The test is simple, yet highly essential in saving your baby’s life.  If you have failed to have newborn screening performed in your baby, ask your pediatrician what can be done to help determine if your baby is safe from those disorders or not.