母血中无细胞 DNA 在检测双胎妊娠染色体异常方面的诊断准确性：系统综述和荟萃分析。

IF 6.1 1区医学 Q1 ACOUSTICS

Ultrasound in Obstetrics & Gynecology Pub Date : 2025-02-01 Epub Date: 2025-01-12 DOI:10.1002/uog.27698

L Della Valle, M Piergianni, A Khalil, A Novelli, G Rizzo, I Mappa, S Prasad, B Matarrelli, V Gatta, L Stuppia, G Pagani, M E Flacco, F D'Antonio

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引用次数: 0

摘要

目的：报告无细胞 DNA（cfDNA）在检测双胎妊娠染色体异常方面的诊断准确性：报告母血中无细胞 DNA（cfDNA）在检测双胎妊娠染色体异常方面的诊断准确性：方法：检索 Medline、Embase 和 Cochrane 数据库。纳入标准为接受 cfDNA 筛查的双胎妊娠，筛查 13、18、21 三体综合征、X0 单体综合征和其他性染色体异常 (SCA)。指标检测以 cfDNA 检测的阳性结果为代表。参考标准以核型结果（产前或产后获得）为代表，如果 cfDNA 结果为阴性，则以正常新生儿表型为代表。研究质量采用修订后的诊断准确性研究质量评估工具（QUADAS-2）进行评估。使用双变量随机效应模型计算了灵敏度、特异性、阳性和阴性似然比（LR+ 和 LR-）以及诊断几率比（DOR）的简要估计值及相应的 95% 置信区间（95% CI）：cfDNA检测双胎妊娠中21三体综合征的准确率很高，灵敏度为98.8%（95% CI 96.5-100），特异性为100%（95% CI 99.9-100）。18 三体综合征的敏感性和特异性分别为 94.9%（95% CI 75.6-99.1）和 100（95% CI 99.9-100），13 三体综合征的敏感性和特异性分别为 84.6%（95% C% 54.6-98.1）和 100%（95% CI 99.9-100）。我们无法计算 cfDNA 检测双胞胎 X0 单体症的诊断准确性，而 cfDNA 检测其他 SCA（11 例）的敏感性为 100%（95% CI 71.5-100），特异性为 99.8%（95% CI 99.7-99.9）。结论：无论绒毛膜性如何，cfDNA 在检测双胎妊娠中的 18 三体综合征和 21 三体综合征方面具有很高的诊断准确性。13三体综合征和SCA的检测准确性因受影响病例的数量较少和SCA假阴性病例的确认困难而受到限制，需要在更大规模的研究中进行确认。本文受版权保护。保留所有权利。

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Diagnostic accuracy of cell-free fetal DNA in maternal blood in detecting chromosomal anomalies in twin pregnancy: systematic review and meta-analysis.

Objective: To report the diagnostic accuracy of cell-free fetal DNA (cfDNA) in maternal blood in detecting fetal chromosomal anomalies in twin pregnancy.

Methods: PubMed, MEDLINE, EMBASE and Cochrane databases were searched from inception to November 2023. The inclusion criteria were twin pregnancy undergoing cfDNA screening for trisomies 21, 18 and 13, monosomy X and/or other sex-chromosome aneuploidies (SCA). The index test was cfDNA screening. The reference standard was pre- or postnatal karyotyping (in the case of a positive cfDNA result) or neonatal phenotypic assessment (in case of a negative cfDNA result). The quality of included studies was assessed using the revised quality assessment of diagnostic accuracy studies (QUADAS-2) tool. Summary estimates of diagnostic accuracy were computed using a bivariate random-effects model.

Results: Thirty-five studies were included in the systematic review and meta-analysis. cfDNA had a high accuracy in detecting trisomy 21 in twin pregnancy, with a sensitivity of 98.8% (95% CI, 96.5-100%) and specificity of 100% (95% CI, 99.9-100%). Sensitivity and specificity were 94.9% (95% CI, 75.9-99.1%) and 100% (95% CI, 99.9-100%), respectively, for trisomy 18 and 84.6% (95% CI, 54.6-98.1%) and 100% (95% CI, 99.9-100%), respectively, for trisomy 13. We could not compute the diagnostic accuracy of cfDNA in detecting monosomy X, owing to an absence of positive cases, while cfDNA had a sensitivity of 100% (95% CI, 71.5-100%) and specificity of 99.8% (95% CI, 99.7-99.9%) for other SCA. The accuracy of cfDNA in detecting the common trisomies was similar in dichorionic and monochorionic twin pregnancies.

Conclusions: cfDNA has high diagnostic accuracy in detecting trisomies 21 and 18 in twin pregnancy, irrespective of chorionicity. Estimation of diagnostic accuracy for trisomy 13 and other SCA was limited by the small number of affected cases and the difficulty associated with detecting false-negative cases of other SCA, and thus requires confirmation in larger studies. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.

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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.