Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing : WestminsterResearch

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Title	Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing
Type	Journal article
Authors	Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Griet Van Buggenhout, Leila Dardour, Hilde Peeters, Hilde Van Esch, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt and Joris R. Vermeesch
Abstract	Objective Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cell-free maternal plasma DNA in the maternal blood plasma. However, false positive and negative non-invasive prenatal testing (NIPT) results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA screening. Method Aneuploidy detection was combined with fetal fraction determination to enable the detection of placental mosaicism. This pipeline was applied to whole genome sequencing data derived from 19 735 plasma samples. Following an abnormal NIPT, test results were validated by conventional invasive prenatal or postnatal genetic testing. Results Respectively 3.2% (5/154), 12.8% (5/39), and 13.3% (2/15) of trisomies 21, 18, and 13 were predicted and confirmed to be mosaic. The incidence of other, rare autosomal trisomies was ~0.3% (58/19,735), 45 of which were predicted to be mosaic. Twin pregnancies with discordant fetal genotypes were predicted and confirmed. Conclusion This approach permits the non-invasive detection of fetal autosomal aneuploidies and identifies pregnancies with a high risk of fetoplacental mosaicism. Knowledge about the presence of chromosomal mosaicism in the placenta influences risk estimation, genetic counseling, and improves prenatal management.
Journal	Prenatal Diagnosis
Journal citation	38 (4), pp. 258-266
ISSN	1097-0223
	0197-3851
Year	2018
Publisher	Wiley
Digital Object Identifier (DOI)	https://doi.org/10.1002/pd.5223
Web address (URL)	https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.5223
Published	Mar 2018

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Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

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