title: Cell free fetal DNA testing in maternal blood of Romanian pregnant women.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medical Genetics, UMF Carol Davila, Romania, Bucharest.
authors.forename: Viorica E
authors.initials: VE
authors.lastname: Radoi
authors.affiliation: Department of Medical Genetics, UMF Carol Davila, Romania, Bucharest.
authors.forename: Camil L
authors.initials: CL
authors.lastname: Bohiltea
authors.affiliation: Department of Maternal and Fetal Medicine, Medlife Romania, Bucharest.
authors.forename: Roxana E
authors.initials: RE
authors.lastname: Bohiltea
authors.affiliation: Department of Maternal and Fetal Medicine, Medlife Romania, Bucharest.
authors.forename: Dragos N
authors.initials: DN
authors.lastname: Albu
keywords: DNA; Fetal; Prenatal