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Non-invasive prenatal test to screen common trisomies in twin pregnancies

机译：非侵入性产前试验，以筛选双胞胎妊娠的常见三粒症

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Objectives:Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of interest from both geneticists and obstetricians. Efficacy of this method in identification of common aneuploidies has been extensively assessed in singleton pregnancies. However, a limited number of studies have addressed the twin pregnancies. In this context, the present study is aimed at identification of the efficacy of NIPT in twin pregnancies.Methods:NIPT was performed on twin pregnancies to screen trisomies 13, 18 and 21. Pregnant women referring to Nilou Clinical Laboratory between March 2016 and December 2018 were included in this research.Results:In the current study, a total 356 twin pregnancies were screened in search for trisomies 13, 18 and 21. 6 cases exhibited positive NIPT results in which the presence of trisomies 13, 18 and 21 was confirmed by fetal karyotype in 1, 2 and 2 cases, respectively. One twin pregnancy showed normal karyotype. The combined false-positive rate for these trisomies was 0.28%. No false negative case was observed. The combined sensitivity and specificity of NIPT in twin pregnancies were 100 and 99.7%, respectively.Conclusion:The results of the current study verify the feasibility, sensitivity and specificity of NIPT in twin pregnancies.? The Author(s). 2020.
机译：目的：近年来，目睹了从产前筛查对非侵入性战略的侵入性方法的转变。因此，使用母体血浆中使用无细胞胎儿DNA的非侵入性产前试验（NIPT）从遗传学家和产科医生中获得了相当大的兴趣。这种方法在鉴定常见非血糖中的疗效在单身妊娠中得到了广泛评估。然而，有限数量的研究已经解决了双胞胎怀孕。在这种情况下，本研究旨在鉴定nipt在双胞胎妊娠中的疗效。方法：nipt对Twin妊娠进行Trisomies 13,18和21的筛选妇女参考2016年3月至2018年3月至2018年12月之间临床实验室被列入了本研究。结果：在目前的研究中，筛选了356例双胞胎妊娠，以寻找三粒状13,18和21. 6例表现出阳性的效果导致，其中三术13,18和21的存在证实了分别为1,2和2例胎儿核型。一条双胞胎妊娠显示正常的核型。这些三粒子的组合假阳性率为0.28％。没有观察到假否定案例。双胞胎妊娠的结合敏感性和特异性分别为100％和99.7％。结论：目前的研究结果验证了单对妊娠中鼠尾炎的可行性，敏感性和特异性。作者。 2020。

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