The utility of molecular techniques for better prenatal diagnosis services in Romania

摘要

Design: 2740 samples including amniotic fluids, CVS, products of conception and blood from female patients with high risk pregnancy were tested. Samples were tested using QF-PCR for rapid diagnosis of trisomy 13, 18, 21 and sex chromosome aneuploidies followed by G-banding chromosome karyotype analysis from cultured cells. Results: We detected 190 (6.93%) abnormal results from which the majority were autosomal anomalies (n=148), 22 cases (0.80%) were sex chromosomes aneuploidies and in 20 cases (0.72%) all five chromosomes were involved. 42.1% of the autosomal abnormalities were represented by trisomy 21 cases (n=80). Normal results were seen in 2550 (93.5%) cases. No false positives or false negative results were detected.