Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins

Journal of Clinical Medicine

Sebastian Grömminger³  Erbil Yagmur⁶  Sanli Erkan¹  Sándor Nagy⁵  Ulrike Schཬk³  Joachim Bonnet³  Patricia Smerdka³  Mathias Ehrich⁴  Rolf-Dieter Wegner²  Wera Hofmann³ 

[1] BioGen Medical Instruments Co. Ltd., Istanbul 34235, Turkey; E-Mail:;Center for Prenatal Diagnosis and Human Genetics Kudamm-199, Berlin 10719, Germany; E-Mails:;LifeCodexx AG, Konstanz 78315, Germany; E-Mails:;Sequenom Center for Molecular Medicine, San Diego, CA 92121, USA; E-Mail:;Petz Aladár Country Teaching Hospital, Győr 9023, Hungary; E-Mail:;Bahceci IVF Center, Istanbul 34330, Turkey; E-Mail:

关键词: NIPT;    cell-fee fetal DNA;    multiple pregnancies;    vanishing twin;    aneuploidy;    trisomy;    random massively parallel sequencing;   

DOI  :  10.3390/jcm3030679

来源: mdpi

【 摘 要 】

Non-invasive prenatal testing (NIPT) by random massively parallel sequencing of maternal plasma DNA for multiple pregnancies is a promising new option for prenatal care since conventional non-invasive screening for fetal trisomies 21, 18 and 13 has limitations and invasive diagnostic methods bear a higher risk for procedure related fetal losses in the case of multiple gestations compared to singletons. In this study, in a retrospective blinded analysis of stored twin samples, all 16 samples have been determined correctly, with four trisomy 21 positive and 12 trisomy negative samples. In the prospective part of the study, 40 blood samples from women with multiple pregnancies have been analyzed (two triplets and 38 twins), with two correctly identified trisomy 21 cases, confirmed by karyotyping. The remaining 38 samples, including the two triplet pregnancies, had trisomy negative results. However, NIPT is also prone to quality issues in case of multiple gestations: the minimum total amount of cell-free fetal DNA must be higher to reach a comparable sensitivity and vanishing twins may cause results that do not represent the genetics of the living sibling, as described in two case reports.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.