Document Detail

A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicism.
MedLine Citation:
PMID:  24186002     Owner:  NLM     Status:  Publisher    
Non-invasive prenatal testing (NIPT) at 13(+2) week of a 42-years-old mother with combined risk of Down syndrome 1/70 revealed high risk of trisomy X (XXX). Amniocentesis performed after positive ultrasound scan at 16(th) week revealed karyotype 48,XXX, +18 , indicating a false negative NIPT result of trisomy 18(T18). Further karyotyping and QF-PCR evidence from the maternal blood, placental tissues and fetal tissue confirmed confined placental mosaicism (CPM) with non-mosaic 48, XXX, +18 fetus and multiclonal placenta with high prevalence of XXX and low prevalence of T18 cells. Massively parallel sequencing (MPS) of the maternal white blood cells, fetal tissue and placental tissues confirmed discrepancy between the fetus and placenta. Because NIPT assesses the fetal aneuploidy risk by analyzing fetal cell-free DNA mostly originated from invading trophoblast cells, it is believed that the low level of T18 placental mosaicism was cause of false negative NIPT result in this rare double trisomic case.
Ya Gao; David Stejskal; Fuman Jiang; Wei Wang
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-11-1
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2013 Nov 
Date Detail:
Created Date:  2013-11-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
This article is protected by copyright. All rights reserved.
BGI-Shenzhen, Shenzhen, China.
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