Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.

ABSTRACT:

Objective

To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection.

Methods

Determination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow.

Results

An LoD of 800 Kb was demonstrated with Coriell cell lines. This level of resolution was confirmed in the clinical cohort with the identificat

SUBMITTER: Doffini A 

PROVIDER: S-EPMC10107339 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature