cell free fetal dna testing in maternal blood of romanian pregnant women

background: the discovery of circulating fetal dna in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis. objective: the purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, x, and y by analysis of fetal cell-free dna from maternal blood, without endangering pregnancy. materials and methods: this retrospective study has been performed in bucharest at medlife maternal and fetal medicine department between 2013-2014. in total  201 women were offered noninvasive prenatal test. maternal plasma samples were collected from women at greater than 9 weeks of gestation after informed consent and genetics counseling. results: from 201 patients; 28 (13.93%) had screening test with high risk for trisomy 21, 116 (57.71%) had advanced maternal age, 1 (0.49%) had second trimester ultrasound markers and the remaining 56 patients (27.86%) performed the test on request. of those patients, 189 (94.02%) had a “low risk” result (<1/10,000). of those who had a low risk result, 2 continued on to have amniocentesis with normal results.five patients (2.48%) received “high risk” results (>99% risk) all for trisomy 21 (t21). t21 was confirmed by amniocentesis in 1 patient and the other 4 patients declined confirmation. the 7 remaining patients (3.48%) had a low fetal fraction of dna. conclusion: it is probably that prenatal diagnosis using fetal dna in maternal blood would play an increasingly role in the future practice of prenatal testing because of high accuracy.