Journal article
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing
Prenatal diagnosis, v 36(11), pp 1009-1019
Nov 2016
PMID: 27616633
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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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Details
- Title
- Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing
- Creators
- Amy M Breman - Baylor College of MedicineJennifer C Chow - RareCyte, Inc. Seattle WA USALance U'Ren - RareCyte, Inc., Seattle, WA, USAElizabeth A Normand - Baylor College of MedicineSadeem Qdaisat - Baylor College of MedicineLi Zhao - Baylor College of MedicineDavid M Henke - Baylor College of MedicineRui Chen - Baylor College of MedicineChad A Shaw - Baylor College of MedicineLaird Jackson - Drexel UniversityYaping Yang - Baylor College of MedicineLiesbeth Vossaert - Baylor College of MedicineRachel H V Needham - RareCyte, Inc. Seattle WA USAElizabeth J Chang - RareCyte, Inc. Seattle WA USADaniel Campton - RareCyte, Inc. Seattle WA USAJeffrey L Werbin - RareCyte, Inc. Seattle WA USARon C Seubert - RareCyte, Inc. Seattle WA USAIgnatia B Van den Veyver - Baylor College of MedicineJackie L Stilwell - RareCyte, Inc. Seattle WA USAEric P Kaldjian - RareCyte, Inc. Seattle WA USAArthur L Beaudet - Baylor College of Medicine
- Publication Details
- Prenatal diagnosis, v 36(11), pp 1009-1019
- Publisher
- Wiley
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000389210500003
- Scopus ID
- 2-s2.0-84990177061
- Other Identifier
- 991019350596304721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity
- Obstetrics & Gynecology