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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-07-01
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Series: | BMC Medical Genomics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12920-020-00751-8 |