非整倍体
医学
产科
产前诊断
前瞻性队列研究
大规模并行测序
胎儿
人口
高龄产妇
产前筛查
中国人口
妇科
怀孕
染色体
生物
遗传学
DNA测序
内科学
基因型
基因
DNA
环境卫生
作者
Yijun Song,Congcong Liu,Hong Qi,Yunping Zhang,Xu-ming Bian,Juntao Liu
摘要
ABSTRACT Objective The recently developed noninvasive prenatal test (NIPT) presents a new era of prenatal screening. Previously reported studies were primarily conducted on high‐risk and advanced maternal age (AMA) pregnancies. We sought to evaluate the performance of NIPT for detection of fetal aneuploidies in a Chinese cohort of women younger than 35 years old in a prospective clinical setting. Methods Maternal plasma samples were sequenced to identify the aneuploidies. The results were compared against the serum screening results and validated by karyotyping through invasive procedures and birth follow‐up. Results A total of 1916 prospectively collected maternal plasma samples were sequenced, among which 73 samples (3.8%) failed the sequencing quality control. Birth follow‐up missed 111 samples (5.8%). The remaining 1741 samples were analyzed. Sequencing reported 15 aneuploidy samples, including all the T21, T18, and T13 cases. Sequencing performed moderately in identifying sex chromosome aneuploidies, detecting two out of four samples, with a specificity of 99.88% (95% CI 99.53% to 99.98%). Conclusions Noninvasive prenatal detection of common fetal aneuploidies is a more sensitive and specific method than triple maternal serum screening. It has a remarkable low false positive rate and is applicable to women younger than 35 years old. © 2013 John Wiley & Sons, Ltd.
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