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2014 ; 3
(3
): 679-92
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gab.com Text
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English Wikipedia
Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies
and Quality Issues with Vanishing Twins
#MMPMID26237471
Grömminger S
; Yagmur E
; Erkan S
; Nagy S
; Schöck U
; Bonnet J
; Smerdka P
; Ehrich M
; Wegner RD
; Hofmann W
; Stumm M
J Clin Med
2014[Jun]; 3
(3
): 679-92
PMID26237471
show ga
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.