Objective: To present the authors' own experiences on transabdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of genetic disorders.
Design: Descriptive study PATIENS AND METHODS: A total of 290 couples with request for prenatal diagnosis of various genetic disorders were studied. The most common indications were: fetal abnormalities suspected in an ultrasound scan and biochemistry positive family history on genetic disorders, maternal age. Transabdominal CVS was done under local anesthesia and ultrasound guidance. The genetic analysis was possible in 264 cases (241 with abnormal ultrasound scan and/or biochemistry 11 with positive family history 12 with maternal age). Results were recorded and analyzed for descriptive statistics.
Result: A total of 290 CVSs were done in the outdoor Most procedures (76%) were done between 12 and 14 weeks (range 11-16 weeks). All placental positions including both anterior and posterior were approachable through the trans-abdominal route. The overall success rate was 100%. Abnormal fetal karyotype was diagnosed in 39% of cases. In 12.9% of cases inconclusive results were observed (due to placental mosaicism or maternal cells contamination). More aneuploidies were observed in group with abnormal first trimester screening (us scan and/or biochemistry) compared to any other indications.
Conclusion: Transabdominal CVS is a useful outdoor procedure for prenatal diagnosis. However indications for the procedure should be carefully considered since some risk of inconclusive results occurred.