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

Objectives: Our aims were to evaluate the current status of prenatal diagnosis in Romania and based on our five years of practice and data to offer the best practice protocol for health-planners and policy decision-makers in order to improve the quality of prenatal care, screening and diagnosis services. 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. Conclusions: We consider this rapid method to be a reliable and accurate tool in relieving maternal anxiety providing a diagnosis report in maximum 24 hours after sampling. QF-PCR assay was also efficient in detecting maternal cell contamination of fetal sample, submicroscopic duplication, somatic microsatelite mutation and mosaicism. Analyzing the difference in methodology and results we offer an efficient strategy for the health prenatal care based on medical, social and economic benefits for both population and parents.