Document Detail

Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation.
MedLine Citation:
PMID:  18439108     Owner:  NLM     Status:  MEDLINE    
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.
Roshan Colah; Reema Surve; Marukh Wadia; Prakash Solanki; Pramod Mayekar; Mariamma Thomas; Ajit Gorakshakar; Adi Dastur; Dipika Mohanty
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic testing     Volume:  12     ISSN:  1090-6576     ISO Abbreviation:  Genet. Test.     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-06-16     Completed Date:  2008-08-11     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9802546     Medline TA:  Genet Test     Country:  United States    
Other Details:
Languages:  eng     Pagination:  181-5     Citation Subset:  IM    
Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India.
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MeSH Terms
Abortion, Eugenic
Fetal Diseases / diagnosis*,  genetics,  prevention & control
Genetic Counseling*
Genetic Predisposition to Disease
Genetic Testing / methods*
Hematologic Tests / methods
Heterozygote Detection*
Osmotic Fragility
Prenatal Care
Prenatal Diagnosis* / methods
Program Evaluation*
beta-Thalassemia* / diagnosis,  genetics,  prevention & control

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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