Effectiveness and feasibility of transabdominal chorionic villous sampling procedure for prenatal diagnosis of beta-thalassaemia in a Muslim majority community of Pakistan

ABSTRACT

To determine the effectiveness and feasibility of transabdominal chorionic villi sample [CVS] procedure for prenatal diagnosis of beta-thalassaemia in a Muslim majority community. Between January 2005 and December 2011, we analysed 798 high-risk mothers with 12-16 weeks of pregnancy for beta-thalassaemia using CVS, performed with a transabdominal route under local anesthesia and ultrasound guidance. The chorionic villi extracted were investigated upon using genomic amplification of beta-globin gene by polymerase chain reaction [PCR]. A total of 798 of which 224[28%] fetus were diagnosed as major, 400[50.1%] as minor, 173[21.6%] as healthy fetus and 1[0.12%] fetus had undetected mutation. Procedure related complications were seen in 20 cases [2.4%] and missed abortion occurred in 6/798. Seven [3%] couples had refused to abort beta-thalassaemia major fetus where as 97% fetus was aborted as per recommendations. Ultrasound guided transabdominal CVS is an effective procedure for prenatal diagnosis of beta- thalassaemia in a Muslim community. We found no cultural hurdles for fetal sampling and prenatal diagnosis