Kenza Benchekroun Belabbes, Elena Bendala Tufanisco, Chirag C Sheth
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引用次数: 0
摘要
目的:本研究旨在比较单胎妊娠中性染色体非整倍体(45,X0、47,XXX、47,XXY 和 47,XYY)和常染色体三体(T21、T18 和 T13)的高危无细胞胎儿 DNA 检测结果与确证试验的阳性预测值。此外,我们还找出了结果不一致和不确定的主要原因。研究方法从2017年起,在PubMed、Web of Science和Scopus上检索有关单胎妊娠常染色体三体和性染色体非整倍体的无细胞胎儿DNA检测的主要研究文章。收集了研究的方法学特征和统计结果,并评估了偏倚风险。结果共纳入 14 项研究。在常染色体三体中,T21 的阳性预测值最高,而 T13 的阳性预测值最低。至于性染色体非整倍体,45,X0的阳性预测值最低。虽然报告的不一致结果和不确定结果并不常见,但假阳性主要是由嵌合引起的,而不确定结果主要是由于胎儿 DNA 比例过低。结论无细胞胎儿 DNA 是常染色体三体的可靠筛查工具。虽然其阳性预测值较低,但也可用于性染色体非整倍体的筛查。如果筛查结果呈阳性,则应进行确证试验。
Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.
Aim: This study was aimed at comparing the positive predictive value of a high-risk cell-free fetal DNA test result for sex chromosome aneuploidies (45,X0, 47,XXX, 47,XXY, and 47,XYY) and autosomal trisomies (T21, T18, and T13) with confirmatory tests in singleton pregnancies. Additionally, we identify the main reason for discordant and inconclusive results. Methods: PubMed, Web of Science, and Scopus were searched from 2017 for primary research articles on cell-free fetal DNA testing of autosomal trisomies and sex chromosome aneuploidies in singleton pregnancies. The methodological characteristics and the statistical results of the studies were collected, and the risk of bias was assessed. Results: Fourteen studies were included. Among the autosomal trisomies, T21 had the highest, whereas T13 showed the lowest positive predictive values. As for the sex chromosome aneuploidies, the lowest values were found with 45,X0. Although discordant and inconclusive results were reported inconsistently, false positives were mainly caused by mosaicism, and inconclusive results were mostly secondary to a low fetal DNA fraction. Conclusion: Cell-free fetal DNA is a reliable screening tool for autosomal trisomies. It is also useful for sex chromosome aneuploidies, although the positive predictive values are lower. A positive screening result should be followed with a confirmatory test.
期刊介绍:
International Journal of Pediatrics is a peer-reviewed, open access journal that publishes original researcharticles, review articles, and clinical studies in all areas of pediatric research. The journal accepts submissions presented as an original article, short communication, case report, review article, systematic review, or letter to the editor.