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Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing
Journal article   Open access   Peer reviewed

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing

Amy M Breman, Jennifer C Chow, Lance U'Ren, Elizabeth A Normand, Sadeem Qdaisat, Li Zhao, David M Henke, Rui Chen, Chad A Shaw, Laird Jackson, …
Prenatal diagnosis, v 36(11), pp 1009-1019
Nov 2016
PMID: 27616633
url
https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.4924View
Published, Version of Record (VoR) Open
url
https://doi.org/10.1002/pd.4924View
Published, Version of Record (VoR) Open

Abstract

Chromosome Aberrations Comparative Genomic Hybridization DNA Copy Number Variations Feasibility Studies Female Healthy Volunteers Humans Male Maternal Serum Screening Tests - methods Pregnancy Sequence Analysis, DNA Trophoblasts - cytology
The goal was to develop methods for detection of chromosomal and subchromosomal abnormalities in fetal cells in the mother's circulation at 10-16 weeks' gestation using analysis by array comparative genomic hybridization (CGH) and/or next-generation sequencing (NGS). Nucleated cells from 30 mL of blood collected at 10-16 weeks' gestation were separated from red cells by density fractionation and then immunostained to identify cytokeratin positive and CD45 negative trophoblasts. Individual cells were picked and subjected to whole genome amplification, genotyping, and analysis by array CGH and NGS. Fetal cells were recovered from most samples as documented by Y chromosome PCR, short tandem repeat analysis, array CGH, and NGS including over 30 normal male cells, one 47,XXY cell from an affected fetus, one trisomy 18 cell from an affected fetus, nine cells from a trisomy 21 case, three normal cells and one trisomy 13 cell from a case with confined placental mosaicism, and two chromosome 15 deletion cells from a case known by CVS to have a 2.7 Mb de novo deletion. We believe that this is the first report of using array CGH and NGS whole genome sequencing to detect chromosomal abnormalities in fetal trophoblastic cells from maternal blood. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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Collaboration types
Domestic collaboration
Web of Science research areas
Genetics & Heredity
Obstetrics & Gynecology
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