A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

Abstract Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. F...

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Bibliographic Details
Main Authors: Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi
Format: Article
Language:English
Published: BMC 2020-07-01
Series:BMC Medical Genomics
Subjects:
Non-invasive prenatal testing (NIPT)
False negative
Down syndrome
21q;21q rearrangements
Online Access:http://link.springer.com/article/10.1186/s12920-020-00751-8

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http://link.springer.com/article/10.1186/s12920-020-00751-8

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