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

Abstract

Introduction: 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. Aim and Objective: 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. Material and Methods: 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. Results: The efficiency of the program for all live birth babies delivered in the institute was 92% (n = 410/445). It was 82% in the first phase of the study period and 98.5% in the second phase. Repeated training of nursing professional reduced the sampling errors from 14.7% in the first phase to 6.1% in the second phase. A total of 11 samples reflected high TSH values, of which one baby confirmed for CH. Of the 24 babies who screened positive for G6PD, four were confirmed for the same. The prevalence for CH and G6PD deficiency was, respectively, 1 in 462 (2/1000) and 4 in 462 (8.7/1000). Conclusion: Development of expansion of NBS program in the state should be made mandatory for all newborns. The recommendations include awareness among parents, during antenatal and postnatal period and also to health professionals and provision for laboratory facilities for NBS testing at low cost.

Keywords

• congenital hypothyroidism
• efficiency
• glucose 6-phosphate dehydrogenase
• prevalence
• recall response
• sampling errors