Prenatal diagnosis of β-thalassaemia by chorionic villous sampling

Samina Tasleem, Huma Tasleem, Mehfooz Ahmed Siddiqui, Malik Muhammad Adil, Yasmin Rashid

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Objective: To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. Methods: A total of 60 couples with children suffering from transfusion dependent β-thalassaemia or couples who were known carriers of β-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was finally transferred in appropriate medium to Armed Forces Institute of Pathology Rawalpindi for detection of thalassaemia mutation. Results: After DNA analysis of the submitted samples, no thalassaemia mutation was detected in the foetus in 24 cases. In 8 cases foetus were heterozygote for thalassaemia having a single mutation. In 28 cases, foetus were homozygous for beta-thalassaemia. Conclusion: Appropriate and extensive screening, accurate detection and counseling of at risk couples, along with antenatal diagnosis is a promising strategy for the reduction of mortality and morbidity from thalassaemia in countries where it is prevalent. Based on these results, it can be concluded that prenatal diagnosis of β-thalassaemia for prevention can be done using chorionic villous sampling.

Original languageEnglish (US)
Pages (from-to)528-531
Number of pages4
JournalJournal of the Pakistan Medical Association
Issue number11
StatePublished - Nov 1 2007
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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