Which Ones Your Baby Needs And Why
Screening tests are done in order to find out if the newborn has any potentially harmful disorder which might hinder their normal development. These tests, done in the first few days of the newborn’s life, mainly detect any such metabolic or hormonal disorders which are generally not apparent at birth. Following are some of the disorders which are usually included in the newborn screening program and their importance:-
Phenylketonuria (PKU) – This is an inherited metabolic disorder where the body is unable to breakdown protein phenylalanine thereby leading to a buildup of phenylalanine in the body cells which causes brain and nervous system damage thereby leading to delayed development or mental retardation. This test is important because kids who are found to be born with this disorder are right away put on a special diet which can help them to avoid this condition and lead normal lives.
Congenital Hypothyroidism - This condition leads to retarded growth and brain development due to the absence of enough thyroid hormones in the baby. If identified and treated with oral doses of thyroid hormone the child can have a normal growth.
Galactosemia – Babies with this disorder do not have the enzyme which converts galactose to glucose. A buildup of galactose in the body damages the organs and cells thereby leading to seizures, mental retardation, liver problems, blindness and even death.
If identified, the baby is put on a milk free diet which helps them to lead a normal life.
Congenital Adrenal Hyperplasia – This consists of a group of disorders which include the deficiency of certain hormones produced by the adrenalin gland. If undetected, this leads to the lack of proper development of the genitals and may also cause death due to the loss of salt from kidneys. Newborns detected with this disorder are put on a lifelong treatment for supplementation of the missing hormones.
Sickle Cell Disease – This is an inherited blood disorder in which the red blood cells become sickle shaped which causes bouts of extreme pain, damage of the vital organs and even death. Young children with this disorder are vulnerable to bacterial infections like meningitis or pneumonia. If detected, the doctors can start antibiotic treatments before the infections occur and can also prevent any disorder in hemoglobin.
Tyrosinemia – This is an amino acid metabolism disorder which hinders the processing of amino acid tyrosine. Accumulation of tyrosine in the body leads to language skill difficulties, liver problems, mild retardation and even death from liver failure.
Early detection and treatment (through diet supplements or liver transplant) of this disorder helps to offset any long term problem.
Biotinidase Deficiency – This disorder occurs due to deficiency of biotin in the baby which leads to poor muscle control, seizures, hearing loss and even coma. If detected, the baby is given extra biotin to prevent the problems.
Cystic Fibrosis – It is a genetic disorder. It makes the baby vulnerable to lung infections. Though there is no known cure, if detected the doctors try to prevent these infections with antibiotics and sufficient nutrition.
Maple Syrup Urine Disease (MSUD) – Babies with MSUD lack the enzyme required to process the three amino acids essential for normal growth of the body. If not detected or treated early MSUD can lead to physical disability, mental retardation and even death.
Apart from the above, other common screening tests are for muscular dystrophy, auditory and vision ability, HIV, neuroblastoma etc. One can also request for additional tests if there is a family history of a certain disorder.
