Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation.
OBJECTIVE
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.


CONCLUSIONS
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.
Colah
Roshan
R
Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India. colahrb@gmail.com
Surve
Reema
R
Wadia
Marukh
M
Solanki
Prakash
P
Mayekar
Pramod
P
Thomas
Mariamma
M
Gorakshakar
Ajit
A
Dastur
Adi
A
Mohanty
Dipika
D
D000025:Abortion, Eugenic; D017218:Cordocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006403:Hematologic Tests / Q000379:methods; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D009996:Osmotic Fragility; D011247:Pregnancy; D011295:Prenatal Care; D011296:Prenatal Diagnosis / Q000379:methods; D015397:Program Evaluation; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control