Prenatal diagnosis of beta-thalassaemia by chorionic villous sampling.
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.


CONCLUSIONS
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.
Rawalpindi General Hospital, Rawalpindi.
Samina
S
Tasleem
Huma
H
Tasleem
Mehfooz Ahmed
MA
Siddiqui
Malik Muhammad
MM
Adil
Yasmin
Y
Rashid
D000328:Adult; D002824:Chorionic Villi; D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010154:Pakistan / Q000453:epidemiology; D010865:Pilot Projects; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
D004247:DNA