Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

PubMedID: 25200820

Korostelev S, Totchiev G, Kanivets I, Gnetetskaya V. Association of non-invasive prenatal testing and chromosomal microarray analysis for prenatal diagnostics. Gynecol Endocrinol. 2014;30 Suppl 113-6.
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.