Related Experiment Video
Updated: Jul 5, 2026
Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies
Published on: September 6, 2017
Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation
Roshan Colah1, Reema Surve, Marukh Wadia
1Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India. colahrb@gmail.com
Insights
Antenatal screening for beta-thalassemia in India is effective, but early registration and spousal screening are crucial. Increased awareness is needed to improve participation and outcomes for at-risk pregnancies.
Area of Science:
- Medical Genetics
- Public Health
- Obstetrics
Background:
- Premarital screening for beta-thalassemia faces challenges in India.
- Antenatal screening offers an alternative strategy for identifying at-risk pregnancies.
Purpose of the Study:
- To evaluate the effectiveness and acceptability of antenatal screening and counseling for beta-thalassemia in India over seven years.
Main Methods:
- A large-scale prospective study involving 61,935 pregnant women screened using the osmotic fragility test.
- Further investigation for beta-thalassemia and hemoglobinopathies in positive cases.
- Spousal testing and genetic counseling for at-risk couples, offering prenatal diagnosis.
Main Results:
- 14% of women screened positive; 1020 beta-thalassemia carriers and 213 with other hemoglobinopathies identified.
- 37 at-risk couples identified after spousal testing, but only 15 opted for prenatal diagnosis.
- Low early registration rates (19%) and limited uptake of prenatal diagnosis were observed.
Conclusions:
- Antenatal screening for beta-thalassemia is feasible and acceptable in India.
- Enhanced awareness campaigns are essential to promote early antenatal registration and spousal screening.
- Improving early detection and intervention for hemoglobinopathies requires greater public engagement.
Aim:
Premarital screening for beta-thalassemia is not widely acceptable in India; hence, we evaluated the effectiveness of antenatal screening and counseling over 7 years.
Methods:
61,935 pregnant women were screened using the single-tube osmotic fragility test during their first antenatal visit. Individuals who were positive were investigated further for diagnosis of beta-thalassemia and other abnormal hemoglobins. Spouses of carrier women were tested whenever available. Couples at risk were given the option of prenatal diagnosis.
Results:
Only 19% of the women registered at the antenatal clinic in the first trimester of pregnancy, and 14% of the women were positive per the osmotic fragility test; 1020 beta-thalassemia heterozygotes and 213 women with other hemoglobinopathies were identified, majority being in the second and third trimesters. Seven hundred and thirteen (69%) of their husbands could be tested, and 37 couples at risk were identified. Only 15 couples had a prenatal diagnosis done. Four couples with affected fetuses opted for termination of pregnancy. The remaining couples either did not respond after counseling or the pregnancies were advanced for prenatal intervention.
Conclusion:
This first large study shows that antenatal screening is acceptable in India; however, awareness generation is still a primary requisite to make women register early at antenatal clinics and bring their spouses for screening when required.
