Ontology highlight
ABSTRACT: Objective
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).Method
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.Results
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.Conclusion
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.
SUBMITTER: Breman AM
PROVIDER: S-EPMC5129580 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Breman Amy M AM Chow Jennifer C JC U'Ren Lance L Normand Elizabeth A EA Qdaisat Sadeem S Zhao Li L Henke David M DM Chen Rui R Shaw Chad A CA Jackson Laird L Yang Yaping Y Vossaert Liesbeth L Needham Rachel H V RH Chang Elizabeth J EJ Campton Daniel D Werbin Jeffrey L JL Seubert Ron C RC Van den Veyver Ignatia B IB Stilwell Jackie L JL Kaldjian Eric P EP Beaudet Arthur L AL
Prenatal diagnosis 20161002 11
<h4>Objective</h4>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).<h4>Method</h4>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 ...[more]