In order to identify uncommon and serious genetic abnormalities in neonates, the state-run Niloufer Hospital in Hyderabad has started a newborn screening project.
Congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and biotinidase deficiency are all intended to be identified by this test.
The initiative was created based on pilot research assessing the incidence rates of certain illnesses, and it was also implemented at Government Medical College in Sangareddy. Congenital hypothyroidism (1 in every 811), G6PD deficiency (1 in every 932), biotinidase deficiency (1 in every 1475), galactosemia (1 in every 1340), and congenital adrenal hyperplasia (1 in every 2009) are the illnesses that have been found, along with their corresponding incidence rates. Hospital superintendent T. Usha Rani stated, “We believe that these disorders are treatable if detected by a screening test.”
Test for heel pricks; results in seven days
Every newborn at the Niloufer Hospital is screened with a heel prick test that is done 24 to 48 hours after the baby is delivered. On a Dried Blood Spot (DBS) card, a blood sample is drawn and submitted to the Hospital for Genetic Diseases and Institute of Genetics in Begumpet for examination. According to Professor and Head of the Department of Neonatology M. Alimelu, parents are alerted for follow-up procedures and additional testing if a condition is detected, which usually takes five days to a week.
R.V. Karnan, Commissioner of Health and Family Welfare, emphasised the possibility for universal screening through public hospital screening schemes. He pointed out that while public hospitals in India pay for delivery in 52% of cases, screening newborns delivered in these facilities may become possible with the introduction of free services, such as newborn screening tests.
