Prenatal hemoglobinopathy screening & prevention in India: A cross-sectional study.

Abstract

Background & objectives India carries a significant burden of hemoglobinopathies, with beta-thalassemia and sickle cell disease (SCD) carrier rates ranging from 3-40 per cent by region. Despite the importance of universal screening, widespread prevention is challenging due to socio-cultural stigma, low awareness, and poor follow up. Sankalp's thalassemia prevention program used targeted prenatal screening rather than mass or cascade screening. The aim of this study was to assess the efficacy and feasibility of a targeted antenatal screening strategy for the prevention and management of severe hemoglobinopathies in India. Methods A cross-sectional study was conducted in 36 districts across five Indian States between April 2023 and March 2024. Pregnant women within 20 wk gestation attending public hospitals were screened for hemoglobinopathies using high-performance liquid chromatography (HPLC). If a woman was identified as a carrier, her partner was tested. At-risk couples received molecular confirmation, followed by prenatal testing and counselling to support informed decisions. Results Of the total 34,647 enrolled women, 33,270 (96%) were screened, identifying 2,268 (6.8%) carriers, 903 (2.7%) beta thalassemia, 1,176 (3.5%) SCD, and 189 (0.6%) other hemoglobinopathies. Partners of 1,959 women (86.4%) were tested, identifying 339 at-risk couples. Testing was unnecessary in five cases due to benign mutations. Fetal testing was completed in 246 pregnancies, identifying 65 affected foetuses. Among these, 44 families (68%) chose to discontinue pregnancy. One affected birth was prevented for every 787 families enrolled. Interpretations & Conclusions The Sankalp program for hemoglobinopathies prevention demonstrates that targeted antenatal screening within public healthcare is a feasible, effective, and scalable strategy for hemoglobinopathy prevention in socio-economically disadvantaged populations.