Prenatal diagnosis of beta-thalassaemia by chorionic villous sampling

Abstract

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 beta-thalassaemia or couples who were known carriers of beta-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 beta-thalassaemia for prevention can be done using chorionic villous sampling.