Department of Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
Prenat Diagn. 2023 Jun;43(7):829-837. doi: 10.1002/pd.6388. Epub 2023 May 31.
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.
无创性产前检测（NIPT）在消失的双胞胎（VT）妊娠中的筛查性能相对未知。为了填补这一知识空白，我们对现有文献进行了系统评价。从文献检索中检索到描述 NIPT 对 21 三体、18 三体、13 三体、性染色体和 VT 妊娠中其他异常的检测性能的研究，检索时间截止到 2022 年 10 月 4 日。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汇总数据的筛查阳性率和汇总阳性预测值（PPV）。共纳入 7 项研究，队列规模从 5 到 767 不等。汇总数据中 21 三体的筛查阳性率为 35/1592（2.2%），PPV 为 20%（35 例中有 7 例证实[95%CI 9.8%-36%]）。18 三体的筛查阳性率为 13/1592（0.91%），PPV 为 25%[95%CI 1.3%-90%]。13 三体的筛查阳性率为 7/1592（0.44%），7 例中无一例证实（汇总 PPV 为 0%[95%CI 0%-100%]）。其他异常的筛查阳性率为 23/767（2.9%），但均无法证实。未报告不一致的阴性结果。目前还没有足够的数据来全面评估 NIPT 在 VT 妊娠中的性能。然而，现有研究表明，NIPT 可以成功检测到受 VT 影响的妊娠中的常见常染色体非整倍体，但假阳性率较高。需要进一步的研究来确定 NIPT 在 VT 妊娠中的最佳时机。
