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Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

机译：双胞胎21和18中的非侵入性产前试验的表现

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Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but there is still relatively little studies demonstrate the feasibility and clinical application of a NIPT for fetal aneuploidy screening in twin pregnancies. In this study, we have finished 432 twin pregnancies screening by NIPT. There were 4 double chorionic dichorionic diamniotic (DCDA) cases of true positive NIPT results, including 1of T18 and 3 of T21, and 1 monochorionic diamniotic (MCDA) cases of true positive NIPT results, including 1of T21. The combined false-positive frequency for trisomies 21, 18 was 0%. Furthermore, there were 2 cases of false positive NIPT results, including 1 of T7 and 1 of sex chromosome aneuploidy. There was no false negative case, which gave a combined sensitivity and specificity of 100 and 99.53% respectively. Our study demonstrated NIPT performed well in the detection of trisomy 21 in twin pregnancy. It is feasible and clinical applicable of NIPT for fetal aneuploidy screening in twin pregnancies. But, it needs a large number of clinical samples to demonstrate the applicability of other chromosomal abnormalities besides trisomies 21 and 18 in both singleton pregnancies and twin pregnancies.
机译：母体等离子体中的无细胞胎儿DNA代表了胎儿遗传物质的来源，其可以是无侵入性取样的。有充分的研究证实了单身妊娠中的nipt的准确性，但仍有相对较少的研究表明，nipt在双胞胎妊娠中的胎儿非整倍性筛选的可行性和临床应用。在这项研究中，我们已经完成了432个双胞胎妊娠筛查了nipt。有4个双绒毛膜二核衍生（DCDA）的真实阳性结果，包括T18和T21的T18和3，1个单色衍生（MCDA）病例为​​真正的阳性NIPT结果，包括T21。三粒子21,18的组合的假阳性频率为0％。此外，存在2例假阳性效果，其中T7和性别染色体非倍性的1例。没有假阴性案例，分别为100％和99.53％的组合敏感性和特异性。我们的研究表明，NIPT在双胞胎妊娠的三粒细胞21中表现良好。在双胞胎妊娠中，可行且临床适用于胎儿非素倍性筛选。但是，它需要大量的临床样本来证明除了Trisomeies 21和18中的其他染色体异常的适用性，两种妊娠和双胞胎妊娠。

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