母体外周血游离 DNA 分析在染色体微缺失和微重复产前筛查中的应用：系统评价。
Cell-free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review.
机构信息
High Risk Pregnancy Unit, Children and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
出版信息
Prenat Diagn. 2021 Sep;41(10):1324-1331. doi: 10.1002/pd.5928. Epub 2021 Mar 12.
BACKGROUND AND AIM OF THE STUDY
Scientific Societies do not recommend the use of cell-free DNA (cfDNA) testing as a first-tier screening for microdeletion and microduplication syndromes (MMs). The aim of this study was to review the current available literature on the performance of cell-free DNA as a screening for MMs.
METHODS
Medline, Embase and the Cochrane Library were searched electronically from 2000 to January 2020 and articles reporting the diagnostic performance of cfDNA screening for MMs in large (>5000 cases) series were included. Between-study heterogeneity and random effect model for screen positive rate (SPR), false positive rate (FPR) and positive predictive value (PPV) were calculated.
RESULTS
We identified 42 papers, seven included, for a total of 474,189 pregnancies and 210 cases of MMs. Diagnostic verification of positive cases was available overall in 486 (71.68 %) of 678 cases. The weighted pooled SPR, FPR and PPV were 0.19% (95% CI = 0.09-0.33), 0.07 (95% CI = 0.02-0.15) and 44.1 (95% CI = 31.49-63.07). In conclusion, the pooled PPV of cfDNA testing in screening for MMs was about 40%, ranging from 29% to 91%, for an overall FPR <0.1%.
CONCLUSIONS
No confirmatory analysis was available in cases that did not undergo invasive testing, which were the vast majority of cases with a negative test, and therefore, the DR and the negative predictive value cannot be determined.
背景与研究目的
科学学会不建议将无细胞游离 DNA（cfDNA）检测用作微缺失和微重复综合征（MMs）的一线筛查。本研究旨在回顾当前关于 cfDNA 作为 MMs 筛查的应用的可用文献。
方法
从 2000 年到 2020 年 1 月，我们通过电子方式在 Medline、Embase 和 Cochrane 图书馆进行了检索，并纳入了报告 cfDNA 筛查 MMs 的大（>5000 例）系列研究的诊断性能的文章。计算了 SPR（screen positive rate）、FPR（false positive rate）和 PPV（positive predictive value）的组间异质性和随机效应模型。
结果
我们共检索到 42 篇文献，其中 7 篇符合纳入标准，共纳入 474189 例妊娠和 210 例 MMs。共有 678 例 MMs 中的 486 例（71.68%）可获得阳性病例的诊断验证。加权汇总的 SPR、FPR 和 PPV 分别为 0.19%（95%CI=0.09-0.33）、0.07%（95%CI=0.02-0.15）和 44.1%（95%CI=31.49-63.07）。总之，cfDNA 检测在 MMs 筛查中的汇总 PPV 约为 40%，范围为 29%至 91%，总体 FPR<0.1%。
结论
对于未进行侵入性检测的病例，无法进行确认性分析，这些病例占大多数阴性检测病例，因此无法确定 DR 和阴性预测值。
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