Korostelev S, Totchiev G, Kanivets I, Gnetetskaya V
First Moscow Medical University , Moscow , Russia .
Gynecol Endocrinol. 2014 Oct;30 Suppl 1:13-6. doi: 10.3109/09513590.2014.945770.
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.
本研究的目的是探讨将无创产前检测（NIPT）与染色体微阵列分析（CMA）相结合用于产前诊断的可能性，以及它们相较于孕早期联合筛查并通过绒毛取样（CVS）或羊水细胞的核型分析进行确认的优势。在本研究中，共有1968名孕妇接受了产前筛查和/或诊断测试。NIPT在检测非整倍体方面更合适且高效。然而，该检测在检测缺失/重复方面存在局限性。使用CMA来确认一些NIPT结果或作为超声异常女性的初次检测，可以检测出染色体中的微小失衡。NIPT和CMA的联合使用能够提高染色体异常的产前检测率。
