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A cross‑sectional study on parental awareness for newborn screening and assessment of the burden of congenital hypothyroidism and glucose 6‑phosphate dehydrogenase deficiency

24 - December - 2020

Newborn Screening (NBS) has been one of the most successful health programs and of most paramount importance worldwide but not so in India. Due to the lack of awareness and paucity of laboratory facilities, the disease burden in our population has not yet been established. The aim and objective of the study was to assess the burden of Congenital Hypothyroidism (CH) and Glucose 6‑Phosphate Dehydrogenase (G6PD) deficiency in this area by NBS tests and to assess the impact of awareness sessions on the response rate of parents for NBS. The screening was conducted in 474 babies of age 48 h up to 8 weeks. The dried blood spots collected were subjected to the following analytical protocol. Thyroid‑stimulating hormone (TSH) level and G6PD enzyme activity were analyzed by immunofluorescence method‑based neonatal kits. All babies with a positive screening test for G6PD deficiency and CH were asked for venous confirmatory testing after 7 days. The prevalence for CH and G6PD deficiency was, respectively, 1 in 462 (2/1000) and 4 in 462 (8.7/1000).