Effectiveness and feasibility of transabdominal chorionic villous sampling procedure for prenatal diagnosis of ß-thalassaemia in a Muslim majority community of Pakistan
Abstract
Objectives: To determine the effectiveness and feasibility of transabdominal chorionic villi sample (CVS) procedure for prenatal diagnosis of ß-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 ß-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 ß-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 ß-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 ß- thalassaemia in a Muslim community. We found no cultural hurdles for fetal sampling and prenatal diagnosis.
Methodology: Between January 2005 and December 2011, we analysed 798 high-risk mothers with 12-16 weeks of pregnancy for ß-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 ß-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 ß-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 ß- thalassaemia in a Muslim community. We found no cultural hurdles for fetal sampling and prenatal diagnosis.
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