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Neonatal Screening

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Neonatal screening program involves timely screening and early detection of newborn babies for genetic disorders, hereditary conditions, potentially fatal diseases, and disabilities. These tests should be made mandatory to reduce, control and eliminate the repercussions and consequences of these diseases and disorders. This can ensure treatment at the nascent stage of these problems, oftentimes even before acute symptoms manifest themselves, so as to reduce infant mortality and improve the quality of life.  

Congenital Hypothyroidism or cretinism occurs due to an acute deficiency of the thyroid hormone in new born, leading to mental retardation, stunted growth, long-term neurological damage, and physical deformities. This condition must be treated within four weeks of birth or intellectual ability may be permanently damaged. Conditions like autistic disorders, autism, vision and hearing problems, lack of comprehension and retaining memory, muscle spasticity, attention deficiency, and so on can be prevented with neonatal screening.

Cystic Fibrosis is a hereditary disorder that damages the lungs and digestive system, as well as other organs. Neonatal screening in the first month of life goes a long way in controlling the severity of symptoms in later life: like recurring lung infections, persistent cough, recurring sinusitis due to thick mucus which blocks the respiratory passage, excessive salt in sweat, excessive and thick mucus which inhibits the absorption of nutrients and blocks digestive enzymes, intestinal blockage (particularly in new born), and frequent bouts of severe constipation.  

G-6-PD Deficiency or inadequate amounts of glucose-6-phosphate dehydrogenase (an important protein enzyme necessary for healthy red blood cells), leads to hemolytic anaemia, where red blood cells are destroyed faster than they are replaced, resulting in reduced amounts of oxygen reaching the body’s cells and organs. It occurs in males of Mediterranean and African origin. Symptoms include rapid heart rate, dark urine, yellow skin and eyes, fatigue, and so on.

Maple Syrup Urine Disease (MSUD) is a rare genetic metabolic disorder where the body cannot break down certain amino acids, which lead to a collection of keto acids, causing poor growth, poor appetite, muscle disorders, physical and neurological damage and even coma. The disease has several variations, and in some cases, symptoms occur as early as shortly after birth, like maple syrup odour in sweat and urine. Therefore, timely screening at the time of birth can ensure that immediate steps are taken to control the disease from deteriorating further in the child’s later life. 

Phenylketonuria is a genetic metabolic disorder affecting 1 in 12000 babies, wherein the lack of certain enzymes causes excess build-up of an amino acid called phenylalanine in the blood, which could lead to small size of head, low birth weight, brain damage, impaired intellectual and mental faculties, behavioural issues, and even seizures, depending on the severity of the disorder. Screening of new born is important so that stringent steps can be taken to control the child’s diet to counter complications from the nascent stage itself. 

17-OHP Screening at birth is necessary to rule out mild or severe form of iCAH (Congenital Adrenal Hyperplasia), a genetic disorder, wherein the adrenal gland makes insufficient amounts of cortisol which determines good functioning of the immune system, as well as managing blood pressure and blood sugar levels of the body. This can cause abnormalities in sexual organs and sexual characteristics (ambiguous genitalia) and sexual dysfunction, depending on the mildness or severity of the condition. Early onset of puberty, severe acne, excessive hair on body, irregular or no periods among girls, hoarse voice, enlarged sexual organs, and infertility are some of the symptoms.

Galactosemia test is an essential test conducted during neonatal screening to check the levels of enzymes needed to break down galactose (found in dairy products) into glucose. Excessive build-up of galactose causes Galactosemia, a genetic disorder which, depending on the severity of the disorder, leads to impaired growth, delayed speech, behavioural issues, low bone mineral density, high risk of infections (which could lead to sepsis), liver damage or failure and reproductive problems. It occurs in 1 among 30-60,000 babies.

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