title: [New screening method for aneuploidies based on analysis of cell-free DNA in the maternal blood].
abstract: The national program of screening for aneuploidies in Bulgaria is based on first trimester combined test, second trimester biochemical test and/or the combination between first and second trimester integrated test.
  
  
  OBJECTIVE
  To review the literature for studies analyzing cell-free (cf) DNA in the maternal blood and to report the clinical implementation and validation of the method in the clinical practice. Literature search and study selection extracted studies since 2011 when the first article was published. The data source included searches from PubMed and Medline. The reported results for detection rates (DR) and false positive rates (FPR) in singleton pregnancies were about 99.0% and 0.08% respectively, for trisomy 21, 96.8% and 0.15% for trisomy 18, 92.1% and 0.20% for trisomy 13, 88.6% and 0.12% for monosomy X. For twin pregnancies, the DR was 94.4% and FPR was 0% for trisomy 21.
  
  
  CONCLUSIONS
  Analysis of cell-free DNA in the maternal blood is an effective method of screening for aneuploidies.
authors.forename: P
authors.initials: P
authors.lastname: Chaveeva
authors.forename: M
authors.initials: M
authors.lastname: Yankova
authors.forename: T
authors.initials: T
authors.lastname: Milachich
authors.forename: T
authors.initials: T
authors.lastname: Timeva
authors.forename: V
authors.initials: V
authors.lastname: Stratieva
authors.forename: A
authors.initials: A
authors.lastname: Shterev
mesh_terms: D000782:Aneuploidy; D004247:DNA / Q000097:blood* / Q000235:genetics; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy / Q000175:diagnosis / Q000235:genetics; D014424:Turner Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics
chemical_list: D004247:DNA