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

Objectives: To determine the effectiveness and feasibility of transabdominal chorionic villi sample (CVS) procedure for prenatal diagnosis of beta-thalassaemia in a Muslim majority community. Methodology: 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). Results: 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. Conclusion: 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.