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Defining the limits of comprehensive chromosome screening by modeling preimplantation mosaicism

by
David Goodrich
B.S., University of New Mexico - 2013

Thesis Advisor: Nathan Treff, Ph.D.
Graduate Program in Microbiology & Molecular Genetics

RWJMS Research Tower
Room V-10
Piscataway

Wednesday, January 11, 2017
11:00 a.m.


Abstract

Approximately 1 in every 6 couples is infertile. For many patients who seek treatment using assisted reproductive technologies (ART), one viable option is in vitro fertilization (IVF). Although aneuploidy is common in embryos created through IVF, a subset of preimplantation stage embryos may possess mosaicism of chromosomal constitution, representing a possible limitation and unique challenge to the clinical predictive value of comprehensive chromosome screening (CCS) from a single biopsy. However, contemporary methods of CCS may be capable of predicting mosaicism in the blastocyst by detecting intermediate levels of aneuploidy within a trophectoderm biopsy. As such, these embryos identified as euploid through conventional CCS may in fact possess whole or sub-chromosomal mosaicism. This challenge represents a possible target for improving the predictive value of current comprehensive chromosome screening methods utilizing a single biopsy. This study sought to evaluate the sensitivity and specificity of both whole chromosome and segmental aneuploidy detection by a variety of commercially available CCS platforms utilizing a novel cell line mixture model using various levels of whole chromosome and segmental mosaicism that might be observed in a typical 6-cell trophectoderm biopsy.


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