title: Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.
abstract: OBJECTIVE
  Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether fetal cells enriched from maternal blood can be used for cell-based NIPT.
  
  
  METHODS
  We present a method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome.
  
  
  RESULTS
  An average of 12.8 fetal cells from 30 mL of maternal blood were recovered using our method. Subsequently, whole genome amplification on fetal cells resulted in amplified fetal DNA in amounts and quality high enough to generate array comparative genomic hybridization as well as next-generation sequencing profiles. From one to two fetal cells, we were able to demonstrate copy number differences of whole chromosomes (21, X-, and Y) as well as subchromosomal aberrations (ring X).
  
  
  CONCLUSIONS
  Intact fetal cells can be isolated from every maternal blood sample. Amplified DNA from isolated fetal cells enabled genetic analysis by array comparative genomic hybridization and next-generation sequencing. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: ARCEDI Biotech ApS, Vejle, Denmark.
authors.forename: Steen
authors.initials: S
authors.lastname: Kølvraa
authors.affiliation: ARCEDI Biotech ApS, Vejle, Denmark.
authors.forename: Ripudaman
authors.initials: R
authors.lastname: Singh
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Normand
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Sadeem
authors.initials: S
authors.lastname: Qdaisat
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.|Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Ignatia B
authors.initials: IB
authors.lastname: van den Veyver
authors.affiliation: Department of OB-Gyn, Drexel University College of Medicine, Philadelphia, PA, USA.
authors.forename: Laird
authors.initials: L
authors.lastname: Jackson
authors.affiliation: ARCEDI Biotech ApS, Vejle, Denmark.
authors.forename: Lotte
authors.initials: L
authors.lastname: Hatt
authors.affiliation: ARCEDI Biotech ApS, Vejle, Denmark.
authors.forename: Palle
authors.initials: P
authors.lastname: Schelde
authors.affiliation: Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus N, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Uldbjerg
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.
authors.forename: Else Marie
authors.initials: EM
authors.lastname: Vestergaard
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Li
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Chad A
authors.initials: CA
authors.lastname: Shaw
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Amy M
authors.initials: AM
authors.lastname: Breman
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Arthur L
authors.initials: AL
authors.lastname: Beaudet
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004247:DNA / Q000032:analysis*; D056915:DNA Copy Number Variations; D005260:Female; D005333:Fetus / Q000166:cytology*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D059010:Single-Cell Analysis / Q000379:methods*
chemical_list: D004247:DNA