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 β-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 β-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 β-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 β-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 β- thalassaemia in a muslim community. we found no cultural hurdles for fetal sampling and prenatal diagnosis