Abstract
BackgroundCell-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.ResultsIn 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.ConclusionOur 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.
Highlights
Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively
With a high proportion of twin births thought to originate in women undergoing assisted reproductive technology (ART), the use of non-invasive prenatal testing (NIPT) to screen for fetal aneuploidy is especially desirable
We have finished 432 twin pregnancies screening by NIPT
Summary
Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. CfDNA analysis of maternal blood provides effective screening for trisomies 21, 18 and 13 with respective detection rates of about 99, 97 and 92%, at a combined false-positive rate (FPR) of 0.4 [1]. Such high performance of screening has been reported for both high-risk pregnancies and in the general population [2,3,4]. Similar trends have been observed in Western Europe and other countries [5] Both the risk for aneuploidies and the risk of miscarriage from invasive testing are higher in twin pregnancies than in singletons [8, 9]. Due to the lack of data in twins, professional societies have called for more researches on NIPT performance in twin gestations [12,13,14]
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