Abstract：
Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. This systematic evidence review evaluates NIPS performance in a general-risk population.
Medline (PubMed) and Embase were used to identify studies examining detection of Down syndrome (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, rare autosomal trisomies, copy number variants, and maternal conditions, as well as studies assessing the psychological impact of NIPS and the rate of subsequent diagnostic testing. Random-effects meta-analyses were used to calculate pooled estimates of NIPS performance (P < .05). Heterogeneity was investigated through subgroup analyses. Risk of bias was assessed.
A total of 87 studies met inclusion criteria. Diagnostic odds ratios were significant (P < .0001) for T21, T18, and T13 for singleton and twin pregnancies. NIPS was accurate (≥99.78%) in detecting sex chromosome aneuploidies. Performance for rare autosomal trisomies and copy number variants was variable. Use of NIPS reduced diagnostic tests by 31% to 79%. Conclusions regarding psychosocial outcomes could not be drawn owing to lack of data. Identification of maternal conditions was rare.
NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.
Medline (PubMed) and Embase were used to identify studies examining detection of Down syndrome (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, rare autosomal trisomies, copy number variants, and maternal conditions, as well as studies assessing the psychological impact of NIPS and the rate of subsequent diagnostic testing. Random-effects meta-analyses were used to calculate pooled estimates of NIPS performance (P < .05). Heterogeneity was investigated through subgroup analyses. Risk of bias was assessed.
A total of 87 studies met inclusion criteria. Diagnostic odds ratios were significant (P < .0001) for T21, T18, and T13 for singleton and twin pregnancies. NIPS was accurate (≥99.78%) in detecting sex chromosome aneuploidies. Performance for rare autosomal trisomies and copy number variants was variable. Use of NIPS reduced diagnostic tests by 31% to 79%. Conclusions regarding psychosocial outcomes could not be drawn owing to lack of data. Identification of maternal conditions was rare.
NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.
摘要：
使用无细胞DNA的非侵入性产前筛查（NIPS）已被纳入产前护理。先前的研究检查了高危人群的临床有效性和技术性能。这项系统的证据审查评估了NIPS在一般风险人群中的表现。
Medline（PubMed）和Embase用于鉴定检测唐氏综合征（T21）的研究，三体18(T18),三体13(T13),性染色体非整倍体，罕见的常染色体三体，拷贝数变体，和产妇状况，以及评估NIPS的心理影响和后续诊断测试率的研究。随机效应荟萃分析用于计算NIPS性能的汇总估计（P<0.05）。通过亚组分析研究异质性。评估偏倚风险。
共有87项研究符合纳入标准。对于单胎和双胎妊娠，T21、T18和T13的诊断比值比显著（P<0.0001）。NIPS在检测性染色体非整倍体方面的准确性（≥99.78％）。罕见的常染色体三体和拷贝数变异的表现是可变的。使用NIPS将诊断测试减少了31％至79％。由于缺乏数据，无法得出有关社会心理结果的结论。母亲状况的鉴定很少见。
NIPS是单胎和双胎妊娠中T21、T18和T13的高度准确的筛查方法。
Medline（PubMed）和Embase用于鉴定检测唐氏综合征（T21）的研究，三体18(T18),三体13(T13),性染色体非整倍体，罕见的常染色体三体，拷贝数变体，和产妇状况，以及评估NIPS的心理影响和后续诊断测试率的研究。随机效应荟萃分析用于计算NIPS性能的汇总估计（P<0.05）。通过亚组分析研究异质性。评估偏倚风险。
共有87项研究符合纳入标准。对于单胎和双胎妊娠，T21、T18和T13的诊断比值比显著（P<0.0001）。NIPS在检测性染色体非整倍体方面的准确性（≥99.78％）。罕见的常染色体三体和拷贝数变异的表现是可变的。使用NIPS将诊断测试减少了31％至79％。由于缺乏数据，无法得出有关社会心理结果的结论。母亲状况的鉴定很少见。
NIPS是单胎和双胎妊娠中T21、T18和T13的高度准确的筛查方法。
