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基于母体血液的胎儿常见性染色体非整倍体无创产前筛查。

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.

作者信息

Zhang Bin, Lu Bei-Yi, Yu Bin, Zheng Fang-Xiu, Zhou Qin, Chen Ying-Ping, Zhang Xiao-Qing

机构信息

Prenatal Diagnosis Laboratory, Changzhou Woman and Children Health Hospital affiliated with Nanjing Medical University, Changzhou City, Jiangsu Province, China.

出版信息

J Int Med Res. 2017 Apr;45(2):621-630. doi: 10.1177/0300060517695008. Epub 2017 Mar 30.

Abstract

Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping. Results The study enrolled 10 275 pregnant women who were prepared to undergo NIPT. Of these, 57 pregnant women (0.55%) showed fetal SCA, including 27 with Turner syndrome (45,X), eight with Triple X syndrome (47,XXX), 12 with Klinefelter syndrome (47,XXY) and three with 47,XYY. Thirty-three pregnant women agreed to undergo fetal karyotyping and 18 had results consistent with NIPT, while 15 patients received a normal karyotype result. The overall positive predictive value of NIPT for detecting SCAs was 54.54% (18/33) and for detecting Turner syndrome (45,X) was 29.41% (5/17). Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X).

摘要

目的 探讨高通量大规模平行基因组DNA测序技术用于无创产前检测胎儿性染色体非整倍体(SCA)的可行性。方法 本研究纳入了准备在孕中期接受无创产前检测(NIPT)的孕妇。从母亲外周静脉血中提取游离胎儿DNA(cffDNA),并进行高通量测序。对被鉴定为怀有与SCA相关妊娠的患者提供产前胎儿染色体核型分析。结果 本研究纳入了10275名准备接受NIPT的孕妇。其中,57名孕妇(0.55%)显示胎儿SCA,包括27例特纳综合征(45,X)、8例XXX综合征(47,XXX)、12例克氏综合征(47,XXY)和3例47,XYY。33名孕妇同意接受胎儿核型分析,18例结果与NIPT一致,15例患者核型结果正常。NIPT检测SCA的总体阳性预测值为54.54%(18/33),检测特纳综合征(45,X)的阳性预测值为29.41%(5/17)。结论 NIPT可通过使用大规模平行基因组测序分析cffDNA来识别胎儿SCA,尽管准确性需要提高,尤其是对于特纳综合征(45,X)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2dec/5536640/552e1f07b996/10.1177_0300060517695008-fig1.jpg

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