Niloufer Hospital in Hyderabad launches Newborn Screening Programme to detect rare genetic conditions

Newborn Screening Programme at Hyderabad’s Niloufer Hospital identifies rare genetic disorders in infants for early intervention and treatment.

A Newborn Screening Programme was launched at the state-run Niloufer Hospital in Hyderabad on Thursday. The initiative aims at identifying infants at risk of rare and severe genetic conditions that could impact their overall health and development.

The screening programme was designed to detect five specific genetic disorders: 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.

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.