Evaluation of comprehensive chromosome screening platforms for the detection of mosaic segmental aneuploidy.

ABSTRACT:

Purpose

A subset of preimplantation embryos identified as euploid may in fact possess both whole and sub-chromosomal mosaicism, raising concerns regarding the predictive value of current comprehensive chromosome screening (CCS) methods utilizing a single biopsy. Current CCS methods may be capable of detecting sub-chromosomal mosaicism in a trophectoderm biopsy by examining intermediate levels of segmental aneuploidy within a biopsy. This study evaluates the sensitivity and specificity of segmental aneuploidy detection by three commercially available CCS platforms utilizing a cell line mixture model of segmental mosaicism in a six-cell trophectoderm biopsy.

Methods

Two cell lines with known karyotypes were obtained and mixed together at specific ratios of six total cells (0:6

SUBMITTER: Goodrich D 

PROVIDER: S-EPMC5533675 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature