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Genome‐wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women
Author(s) -
Kølvraa Steen,
Singh Ripudaman,
Normand Elizabeth A.,
Qdaisat Sadeem,
Veyver Ignatia B.,
Jackson Laird,
Hatt Lotte,
Schelde Palle,
Uldbjerg Niels,
Vestergaard Else Marie,
Zhao Li,
Chen Rui,
Shaw Chad A.,
Breman Amy M.,
Beaudet Arthur L.
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4948
Subject(s) - fetus , comparative genomic hybridization , genome , andrology , biology , cell free fetal dna , dna , copy number variation , prenatal diagnosis , genomic dna , pregnancy , genetics , obstetrics , gene , medicine
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). Conclusion 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.