Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.

ABSTRACT:

Objective

To gather additional data on the ability to detect subchromosomal abnormalities of various sizes in single fetal cells isolated from maternal blood, using low-coverage shotgun next-generation sequencing for cell-based noninvasive prenatal testing (NIPT).

Method

Fetal trophoblasts were recovered from approximately 30 mL of maternal blood using maternal white blood cell depletion, density-based cell separation, immunofluorescence staining, and high-resolution scanning. These trophoblastic cells were picked as single cells and underwent whole genome amplification for subsequent genome-wide copy number analysis and genotyping to confirm the fetal origin of the cells.

Results

Applying our fetal cell isolation method to a series of 125 maternal blood samples, we d

SUBMITTER: Vossaert L 

PROVIDER: S-EPMC6587831 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature