Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
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无创产前筛查扩大染色体疾病综合征的临床应用
DOI：
10.1038/s41436-019-0467-4
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发表时间：
2019-09-01
影响因子：
8.8
通讯作者：
Wu, Lingqian
中科院分区：
文献类型：
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作者：
Liang, Desheng;Cram, David S.;Wu, Lingqian
目的：为了评估扩大的非侵入性产前筛查（NIPS）测试（“NIPS-Plus”）的临床性能，用于检测非整倍体和全基因组微缺失/微重复综合征（MMS）。方法：共有94,085名单胎妊娠妇女前瞻性地参加了这项研究。无细胞血浆DNA直接测序没有中间扩增和胎儿异常确定使用改进的拷贝数变异（CNV）调用algorithm.Results：共1128例妊娠（1.2%）被评为临床显着的胎儿染色体异常阳性。其中非整倍体965例（1.026%），MMS 163例（0.174%）。根据随访试验，T21、T18、T13、罕见三体和性染色体非整倍体的阳性预测值（PPV）分别为95%、82%、46%、29%和47%。对于已知的MMS（n = 32），PPV分别为93%（DiGeorge）、68%（22q11.22微重复）、75%（Prader-Willi/Angleman）和50%（Cri du Chat）。对于其余的全基因组MMS（n = 88），合并PPV分别为32%（CNVs >= Mb）和19%（CNVs
Purpose: To assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test ("NIPS-Plus") for detection of both aneuploidy and genome-wide microdeletion/microduplication syndromes (MMS).Methods: A total of 94,085 women with a singleton pregnancy were prospectively enrolled in the study. The cell-free plasma DNA was directly sequenced without intermediate amplification and fetal abnormalities identified using an improved copy-number variation (CNV) calling algorithm.Results: A total of 1128 pregnancies (1.2%) were scored positive for clinically significant fetal chromosome abnormalities. This comprised 965 aneuploidies (1.026%) and 163 (0.174%) MMS. From follow-up tests, the positive predictive values (PPVs) for T21, T18, T13, rare trisomies, and sex chromosome aneuploidies were calculated as 95%, 82%, 46%, 29%, and 47%, respectively. For known MMS (n = 32), PPVs were 93% (DiGeorge), 68% (22q11.22 microduplication), 75% (Prader-Willi/Angleman), and 50% (Cri du Chat). For the remaining genome-wide MMS (n = 88), combined PPVs were 32% (CNVs >= Mb) and 19% (CNVs