Fetal Chromosomal Abnormalities Screened by Non-invasive Prenatal Genetic Testing / 中国医科大学学报

ABSTRACT

Objective To explore the clinical significance of non-invasive prenatal genetic testing to screen prenatal fetal chromosomal abnormalities. Methods Peripheral blood was collected from 6 283 pregnant women who underwent non-invasive prenatal genetic testing at our hospital, and fetal DNA was extracted and purified for analysis. The complementary base principle of semiconductor chip technology was used to analyze all sequenced signals with BioelectronSeq 4000. Invasive prenatal diagnosis was performed in high-risk pregnant women according to the results of the sex chromosome sequencing signal analysis. Results Of the 6 283 pregnant women screened, 14 were found to have chromosomal abnormalities, and the positive rate was 0. 22％. Karyotype analysis was performed on 11 of the women; the remaining 3 refused to be diagnosed. Of these 11 women, 2 of the 5 patients with a high risk of XO were diagnosed with fetal chromosomal abnormalities (diagnosed as XO/XXX chimera and XO, respectively), and 3 were diagnosed with a normal karyotype; 5 patients with a high risk of XXY were diagnosed as XXY; and 1 patient with a high risk of XXX was confirmed as XXX. NIPT accuracy was measured to be 73％ (8/11). The detection rate of fetal chromosomal abnormalities by non-invasive prenatal genetic testing was significantly higher in the years 2015-2016 than in 2011-2014 (P ＜ 0. 05). Conclusion Non-invasive prenatal genetic testing for screening chromosomal abnormalities has a high accuracy rate and could improve the detection rate of fetal chromosomal abnormalities.