Feasibility and Cost Analysis of Antenatal Screening and Diagnosis of Hemoglobinopathies: A Prospective Study

Abhilasha Sampagar, Neha Giridhar Patil, Niranjana Shambhulingappa Mahantashetti, Hema Patil, Manjunath Hukkeri, Ranjit Kangle, Manjunath Somappa Somannavar, Shivprasad Goudar

Abstract

Aim: To assess the role of antenatal screening and diagnosis in the prevention of hemoglobinopathies and assess the feasibility and cost of the screening

Materials and Methods: This was a prospective, cross-sectional study. Pregnant women who were at < 20 weeks of gestation were screened for hemoglobinopathy traits by assessing red cell indices and conducting high-performance liquid chromatography (HPLC) test for the detection of abnormal Hb. The husbands of carriers were screened for the same, and at-risk couples were identified. After antenatal testing, couples with fetuses that were positive for significant hemoglobinopathies were advised pregnancy termination. The primary outcome measures were to find the prevalence of hemoglobinopathy traits, prevent clinically significant hemoglobinopathies, and analyze the direct costs involved.

Results: Hemoglobinopathy traits were detected in 30 (4.8%) of the 615 women enrolled. The most common was the β-thalassemia trait (BTT), which was seen in 20 (66.7%) women. Among the 30 husbands, 25 of them consented for HPLC, and 7 at-risk couples were identified. Of these 7 at-risk couples, 6 women were subjected to antenatal diagnosis, and in 4 cases, the fetuses were found to be homozygous for β-thalassemia with IVS-I-5(G>C) mutation. All 4 couples opted for pregnancy termination. The cost of prevention of a single β-thalassemia birth came to INR 1,11,750 (USD 1354).

Conclusion: This study demonstrates that antenatal screening of hemoglobinopathies is feasible and cost-effective. The 3.4% prevalence of BTT in the study cohort indicates the importance of universalizing antenatal screening for the prevention of β-thalassemia major births and achieving a thalassemia-free India.