A newborn screening programme, to detect rare and severe genetic conditions in infants, was launched at the state-run Niloufer Hospital in Hyderabad on February 29.
The screening is designed to detect congenital hypothyroidism, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, galactosemia and biotinidase deficiency.
The programme, which was also implemented at Government Medical College in Sangareddy, was established based on pilot studies evaluating the incidence rates of these disorders. The identified disorders and their respective incidence rates are as follows: 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). “We believe that these disorders if detected by a screening test are treatable”, said hospital superintendent T. Usha Rani.
Heel prick test, results in five-seven days
The screening process involves a heel prick test conducted within 24 to 48 hours after birth for every child born at the Niloufer Hospital. A blood sample is collected on a Dried Blood Spot (DBS) card, which is then sent to the Institute of Genetics and Hospital for Genetic Diseases in Begumpet for analysis. The results typically take five days to a week, and if a disorder is diagnosed, parents are notified for further confirmatory tests and subsequent procedures, said M. Alimelu, Professor and HOD of the Department of Neonatology.
Commissioner of Health and Family Welfare, R.V. Karnan, highlighted the potential of screening programmes in public hospitals for achieving universal screening. He noted that since approximately 52% of births in India occur in public hospitals where delivery costs are covered, implementing free services, including newborn screening tests, could enable the screening of all babies born in public hospitals.
Published - February 29, 2024 03:26 pm IST
