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目的:探讨高通量测序(HTS)技术在高龄孕妇胎儿染色体非整倍体筛查中的临床应用。方法:2 090例单胎高龄孕妇行无创产前检测(NIPT),结果异常的孕妇再行羊膜腔穿刺,羊水细胞培养后染色体G320显带核型分析。结果:2 090例样本中,高通量基因测序提示22例胎儿染色体非整倍体高风险,19例孕妇自愿接受羊水产前诊断,其中16例羊水G带核型结果与NIPT测序结果一致,包括12例T21,2例T18,2例性染色体异常,阳性预测值为84.2%(16/19)。结论:对于拒绝接受介入性产前诊断的高龄孕妇,临床可推荐无创的高通量基因测序产前检测技术,进一步降低出生缺陷儿的发生率。
Objective: To investigate the clinical application of high-throughput sequencing (HTS) in screening fetal aneuploidy in pregnant women. Methods: A total of 2 090 singleton pregnant women underwent noninvasive prenatal testing (NIPT). Abnormal pregnant women were treated with amniocentesis and amniotic fluid cell culture. Results: Of 2 090 samples, high-throughput gene sequencing indicated that 22 fetuses were at high risk of fetal aneuploidy, 19 pregnant women were willing to accept amniotic fluid prenatal diagnosis voluntarily. 16 cases of amniotic fluid G-band karyotype results were consistent with NIPT sequencing results, including 12 cases of T21, 2 cases of T18 and 2 cases of chromosomal abnormalities, the positive predictive value was 84.2% (16/19). Conclusion: For pregnant women who refuse to accept interventional prenatal diagnosis, noninvasive high-throughput gene sequencing prenatal testing may be recommended clinically to further reduce the incidence of birth defects.