山东医药2017，Vol.57Issue(20)：1-4,4.DOI:10.3969/j.issn.1002-266X.2017.20.001
无创性胎儿常见染色体非整倍体筛查与结果分析
Non-invasive common fetal chromosomal aneuploidy screening and result analysis
摘要
Abstract
Objective To explore the application value of non-invasive common fetal chromosomal aneuploidy screening.Methods A total of 5 469 maternal peripheral blood samples were collected, and plasma free DNA was extracted for high throughput sequencing to detect fetal chromosomal aneuploidies.Samples with high risk of trisomies 21, 18, 13, X and Y were verified by multiplex quantitative fluorescent PCR (QF-PCR) and karyotype analysis by using amniotic fluid or cord blood.Results After non-invasive prenatal screening, 71 (1.3%) showed positive results, including 30 cases of trisomy 21, 7 cases of trisomy 18, 6 cases of trisomy 13, 11 cases with increased X chromosome, and 17 cases with decreased X chromosome.In trisomies 21, 18 and 13, 5 cases rejected interventional prenatal diagnosis, 3 cases were false positive, and the rest were all consistent with the results of QF-PCR and karyotyping.In positive results of sex chromosome aneuploidies, 13 cases were confirmed abnormal by karyotyping, and the accuracy rate was about 46.4%.The other 5 398 pregnant women with negative screening results were monitored by B ultrasound and were telephoned for follow-up, and none of them were found trisomies 21, 18, 13, X and Y.Conclusions Non-invasive fetal chromosomal aneuploidy screening can accurately detect trisomies 21, 18 and 13, which can serve as a useful complement to traditional prenatal screening and diagnosis.While the accuracy of sex chromosome aneuploidies detection is low, we still need to further optimize the detection and analysis method.关键词
染色体非整倍体/产前筛查/DNA高通量测序技术/血浆游离DNAKey words
chromosomal aneuploidy/prenatal screening/DNA next-generation sequencing technology/plasma free DNA分类
医药卫生引用本文复制引用
张媛媛,刘晓亮,初国铭,崔婉婷,何蓉,赵彦艳..无创性胎儿常见染色体非整倍体筛查与结果分析[J].山东医药,2017,57(20):1-4,4.基金项目
国家自然科学基金资助项目(81500242,31571198). （81500242,31571198）
