染色体微阵列分析在生长受限且核型正常的胎儿中的应用：一项系统评价和荟萃分析

Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis.

作者信息

Borrell Antoni, Grande Maribel, Pauta Montse, Rodriguez-Revenga Laia, Figueras Francesc

机构信息

BCNatal, Department of Maternal-Fetal Medicine, Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clínic Barcelona, Barcelona, Catalonia, Spain.

出版信息

Fetal Diagn Ther. 2018;44(1):1-9. doi: 10.1159/000479506. Epub 2017 Sep 9.

DOI:10.1159/000479506

PMID:28889126

Abstract

OBJECTIVE

To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR).

METHODS

This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included. Case reports were excluded. Risk differences were pooled to estimate the overall and stratified CMA incremental yield.

RESULTS

Ten studies with full data available met the inclusion criteria for analysis. Combined data from these studies revealed a 4% (95% confidence interval [CI] 1-6%) incremental yield of CMA over karyotyping in nonmalformed growth-restricted fetuses, and a 10% (95% CI 6-14%) incremental yield in FGR when associated with fetal malformations. The most frequently found pathogenic CNVs were 22q11.2 duplication, Xp22.3 deletion, and 7q11.23 deletion (Williams-Beuren syndrome), particularly in isolated FGR.

CONCLUSION

The use of genomic CMA provides a 4% incremental yield of detecting pathogenic CNVs in fetuses with isolated growth restriction and normal karyotype.

摘要

目的

对文献进行系统评价和荟萃分析，以评估染色体微阵列分析（CMA）相对于核型分析在胎儿生长受限（FGR）中的额外诊断率。

方法

这是一项按照PRISMA标准进行的系统评价。纳入2009年1月至2016年11月期间在PubMed、Ovid Medline和ISI Web of Knowledge（科学网）中检索到的所有描述生长受限胎儿致病拷贝数变异（CNV）的文章。排除病例报告。汇总风险差异以估计总体和分层的CMA额外诊断率。

结果

十项有完整数据的研究符合分析纳入标准。这些研究的合并数据显示，在无畸形的生长受限胎儿中，CMA相对于核型分析的额外诊断率为4%（95%置信区间[CI]1 - 6%），在伴有胎儿畸形的FGR中为10%（95%CI 6 - 14%）。最常发现的致病CNV是22q11.2重复、Xp22.3缺失和7q11.23缺失（威廉姆斯-伯伦综合征），特别是在孤立性FGR中。