Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations

Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations

Introduction: Non-invasive prenatal screening (NIPS) via cell-free DNA (cfDNA) screens for fetal chromosome disorders using maternal plasma, including 22q11.2 deletion syndrome (22q11.2DS). While it is the commonest microdeletion syndrome and has potential implications for perinatal management, pren...

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Bibliographic Details
Main Authors: Erica Soster, Brittany Dyr, Jill Rafalko, Eyad Almasri, Phillip Cacheris
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
cell-free (fetal) DNA
cfDNA (circulating cell free DNA)
NIPT (non-invasive prenatal testing)
22q11.2 deletion syndrome
prenatal screening and diagnosis
22q deletion syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1146669/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1146669/full

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