Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women

被引：59

作者：

Kolvraa, Steen ^{[1
]}

Singh, Ripudaman ^{[1
]}

Normand, Elizabeth A. ^{[2
]}

Qdaisat, Sadeem ^{[2
]}

van den Veyver, Ignatia B. ^{[2
,3
]}

Jackson, Laird ^{[4
]}

Hatt, Lotte ^{[1
]}

Schelde, Palle ^{[1
]}

Uldbjerg, Niels ^{[5
]}

Vestergaard, Else Marie ^{[6
]}

Zhao, Li ^{[2
]}

Chen, Rui ^{[2
]}

Shaw, Chad A. ^{[2
]}

Breman, Amy M. ^{[2
]}

Beaudet, Arthur L. ^{[2
]}

机构：

[1] ARCEDI Biotech ApS, Vejle, Denmark

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA

[4] Drexel Univ, Coll Med, Dept OB Gyn, Philadelphia, PA 19104 USA

[5] Aarhus Univ Hosp, Dept Obstet & Gynecol, Aarhus N, Denmark

[6] Aarhus Univ Hosp, Dept Clin Genet, Aarhus N, Denmark

来源：

PRENATAL DIAGNOSIS | 2016年 / 36卷 / 12期

关键词：

D O I：

10.1002/pd.4948

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 30mL 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. (C) 2016 John Wiley & Sons, Ltd.

引用

页码：1127 / 1134

页数：8

共 32 条

[1]

[Anonymous], REV OBSTET GYNECOL

[2]

[Anonymous], PRENAT DIAGN

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