Abstract:
The screening performance of non-invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a systematic review of the available literature. Studies describing the test performance of NIPT for trisomy 21, 18, 13, sex chromosomes and additional findings in pregnancies with a VT were retrieved from a literature search with a publication date until October 4, 2022. The methodological quality of the studies was assessed with the quality assessment tool for diagnostic accuracy studies-2 (QUADAS-2). The screen positive rate of the pooled data and the pooled positive predictive value (PPV) were calculated using a random effects model. Seven studies, with cohort sizes ranging from 5 to 767, were included. The screen positive rate of the pooled data for trisomy 21 was 35/1592 (2.2%), with a PPV of 20% (confirmation in 7/35 cases [95% CI 9.8%-36%]). For trisomy 18, the screen positive rate was 13/1592 (0.91%) and the pooled PPV 25% [95% CI 1.3%-90%]. The screen positive rate for trisomy 13 was 7/1592 (0.44%) and confirmed in 0/7 cases (pooled PPV 0% [95% CI 0%-100%]). The screen positive rate for additional findings was 23/767 (2.9%), of which none could be confirmed. No discordant negative results were reported. There is insufficient data to fully evaluate NIPT performance in pregnancies with a VT. However, existing studies suggest that NIPT can successfully detect common autosomal aneuploidies in pregnancies affected by a VT but with a higher false positive rate. Further studies are needed to determine the optimal timing of NIPT in VT pregnancies.
摘要:
目的:非侵入性产前检测(NIPT)在双胎妊娠中的筛查表现相对未知。为了缩小这一知识差距,我们对现有文献进行了系统回顾.
方法:从文献检索中检索了描述NIPT对21、18、13三体性染色体的测试性能的研究,以及在双胎消失的怀孕中的其他发现。2022年。使用诊断准确性研究质量评估工具-2(QUADAS-2)评估研究的方法学质量。使用随机效应模型计算合并数据的筛选阳性率和合并阳性预测值(PPV)。
结果:七项研究,队列大小在5~767之间。21三体的合并数据的筛查阳性率为35/1592(2.2%),PPV为20%(在7/35例中确认[95CI9.8%-36%])。对于18三体,筛查阳性率为13/1592(0.91%),合并PPV为25%[95CI1.3%-90%]。13三体的筛查阳性率为7/1592(0.44%),在0/7例中得到证实(合并PPV0%[95CI0%-100%])。额外发现的屏幕阳性率为23/767(2.9%),其中没有一个可以确认。没有不一致的阴性结果报告。
结论:没有足够的数据来全面评估双胎消失的孕妇的NIPT表现。然而,现有的研究表明,NIPT可以成功地检测常见的常染色体非整倍体在怀孕影响一个消失的双胞胎,但假阳性率较高。需要进一步的研究来确定NIPT在双胎妊娠中的最佳时机。本文受版权保护。保留所有权利。