Accuracy of cell-free fetal DNA in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta-analysis.

IF 6.1 1区医学 Q1 ACOUSTICS Ultrasound in Obstetrics & Gynecology Pub Date : 2025-01-01 Epub Date: 2024-12-07 DOI:10.1002/uog.29131

L Della Valle, M Piergianni, A Khalil, G Rizzo, I Mappa, B Matarrelli, A Lucidi, L Manzoli, M E Flacco, L Stuppia, F D'Antonio

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Abstract

Objective: To report the diagnostic accuracy of cell-free fetal DNA (cfDNA) in detecting fetal chromosomal anomalies in women experiencing miscarriage.

Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to June 2024. The inclusion criteria were women experiencing miscarriage (defined as pregnancy loss before 20 weeks of gestation) who underwent cfDNA screening for trisomies 21, 18 and 13, other autosomal aneuploidies, sex-chromosome aneuploidies and/or copy-number variants (CNVs). The index test was cfDNA screening for each of the chromosomal anomalies listed. The reference standard was cytogenetic analysis of pregnancy tissue. The quality of the studies was assessed using the revised tool for the quality assessment of diagnostic accuracy studies. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio were computed using the hierarchical summary receiver-operating-characteristics model.

Results: Seven studies (887 women) were included in the systematic review and meta-analysis. cfDNA had a sensitivity and specificity of 100% (95% CI, 81.5-100%) and 100% (95% CI, 99.1-100%), respectively, for trisomy 21, 100% (95% CI, 54.1-100%) and 100% (95% CI, 99.0-100%), respectively, for trisomy 18, and 88.9% (95% CI, 51.8-99.7%) and 100% (95% CI, 99.1-100%), respectively, for trisomy 13. The respective values for other autosomal trisomies were 75.8% (95% CI, 65.7-84.2%) and 99.4% (95% CI, 97.9-99.9%), while those for CNVs were 60.0% (95% CI, 14.7-94.7%) and 100% (95% CI, 97.4-100%). Failure of cfDNA testing was reported in 7.3% (95% CI, 5.7-9.2%) of cases.

Conclusion: cfDNA has high diagnostic accuracy in detecting fetal trisomies 21, 18 and 13 in women experiencing miscarriage, while its accuracy for other autosomal aneuploidies and CNVs is only moderate. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

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无细胞胎儿DNA检测流产妇女染色体异常的准确性：系统回顾和荟萃分析。

目的：报道无细胞胎儿DNA （cfDNA）检测流产妇女胎儿染色体异常的诊断准确性。方法：检索PubMed、MEDLINE、EMBASE和Cochrane数据库，检索时间为建库至2024年6月。纳入标准是有流产经历的妇女（定义为妊娠20周前流产），她们接受了cfDNA筛查，包括21、18和13三体、其他常染色体非整倍体、性染色体非整倍体和/或拷贝数变异（CNVs）。指标测试是cfDNA筛选列出的每一个染色体异常。参照标准为妊娠组织细胞遗传学分析。使用修订后的诊断准确性研究质量评估工具评估研究的质量。敏感性、特异性、阳性和阴性似然比和诊断优势比的汇总估计使用分级汇总接收者-操作特征模型计算。结果：7项研究（887名女性）被纳入系统评价和荟萃分析。cfDNA对21三体的敏感性和特异性分别为100% （95% CI, 81.5-100%）和100% (95% CI, 99.1-100%)，对18三体的敏感性和特异性分别为100% （95% CI, 54.1-100%）和100% (95% CI, 99.0-100%)，对13三体的敏感性和特异性分别为88.9% （95% CI, 51.8-99.7%）和100% （95% CI, 99.1-100%）。其他常染色体三体分别为75.8% （95% CI, 65.7-84.2%）和99.4% (95% CI, 94.9% -99.9%)，而CNVs分别为60.0% （95% CI, 14.7-94.7%）和100% （95% CI, 974 -100%）。7.3% （95% CI, 5.7-9.2%）的病例报告cfDNA检测失败。结论：cfDNA对流产妇女胎儿21,18和13三体的诊断准确率较高，而对其他常染色体非整倍体和CNVs的诊断准确率仅为中等。©2024国际妇产科超声学会。

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来源期刊

Ultrasound in Obstetrics & Gynecology 医学-妇产科学

CiteScore

12.30

自引率

14.10%

发文量

891

审稿时长

1 months

期刊介绍： Ultrasound in Obstetrics & Gynecology (UOG) is the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) and is considered the foremost international peer-reviewed journal in the field. It publishes cutting-edge research that is highly relevant to clinical practice, which includes guidelines, expert commentaries, consensus statements, original articles, and systematic reviews. UOG is widely recognized and included in prominent abstract and indexing databases such as Index Medicus and Current Contents.