title: Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics.
abstract: The purposes of this study is to examine possibility to use combination of non-invasive prenatal testing (NIPT) and chromosomal microarray analysis (CMA) for prenatal diagnostics and their advantages between combined first-trimester screen with confirmation by karyotyping of CVS or amniocytes. A total of 1968 pregnant women, in this study, have undergone prenatal screening and/or diagnostic tests. NIPT is more suitable and efficient for the detection of aneuploidy. However, this test has limitations for detection deletions/duplications. Use of CMA for confirmation of some NIPT findings or as first test for women with ultrasound abnormalities can detect small imbalances in chromosomes. Combination of NIPT and CMA allows a higher prenatal detection of chromosomal abnormalities.
authors.affiliation: First Moscow Medical University , Moscow , Russia .
authors.forename: S
authors.initials: S
authors.lastname: Korostelev
authors.forename: G
authors.initials: G
authors.lastname: Totchiev
authors.forename: I
authors.initials: I
authors.lastname: Kanivets
authors.forename: V
authors.initials: V
authors.lastname: Gnetetskaya
mesh_terms: D000328:Adult; D000465:Algorithms; D002869:Chromosome Aberrations / Q000196:embryology*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D006801:Humans; D046228:Microarray Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
keywords: Chromosomal microarray analysis; non-invasive prenatal test; prenatal diagnostics