Fetal Chromosomal Abnormalities Screened by Non-invasive Prenatal Genetic Testing
10.12007/j.issn.0258-4646.2018.03.011
- VernacularTitle:无创产前基因检测筛查胎儿性染色体异常
- Author:
Fanjie MENG
1
;
Lishuang LUO
;
Yuexin YU
;
Ning ZHANG
;
Dongmei HAO
Author Information
1. 中国人民解放军第202医院生殖医学中心
- Keywords:
sex chromosomal abnormality;
non-invasive prenatal genetic testing;
prenatal screening
- From:
Journal of China Medical University
2018;47(3):240-243
- CountryChina
- Language:Chinese
-
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.
