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

Area of Science:

• Genetics and Public Health
• Reproductive Medicine
• Hematology

Background:

• India faces a high burden of hemoglobinopathies, including beta-thalassemia and sickle cell disease (SCD).
• Challenges in widespread prevention include stigma, low awareness, and inadequate follow-up.
• Sankalp's program focused on targeted prenatal screening.

Purpose of the Study:

• To evaluate the efficacy and feasibility of a targeted antenatal screening strategy.
• To assess the prevention and management of severe hemoglobinopathies in India.

Main Methods:

• A cross-sectional study involved 33,270 pregnant women in 36 districts across five Indian states.
• High-performance liquid chromatography (HPLC) screened for hemoglobinopathies.
• Carrier identification led to partner testing, molecular confirmation, prenatal diagnosis, and genetic counseling.

Main Results:

• 6.8% of screened women were carriers (2,268), with 2.7% beta-thalassemia and 3.5% SCD.
• 339 at-risk couples were identified through partner testing.
• Prenatal testing identified 65 affected fetuses, leading to pregnancy termination in 68% of cases; one affected birth was prevented per 787 families enrolled.

Conclusions:

• Targeted antenatal screening is a feasible, effective, and scalable strategy for hemoglobinopathy prevention.
• The approach is suitable for socio-economically disadvantaged populations within public healthcare systems.
• This strategy aids in the prevention and management of severe hemoglobinopathies in India.