Human embryonic mosaicism: single-cell whole-genome sequencing and hEPS cell conversion
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Infertility affects nearly 10% of women globally, and many of these women seek Assisted Reproductive Technology (ART) therapies (Mascarenhas, Flaxman, Boerma, Vanderpoel, & Stevens, 2012). Despite the substantial clinical need for improvements in in vitro fertilization, embryo implantation, pregnancy and live birth rates following embryo transfer remain below 50% (CDC Division of Reproductive Health, 2017). This paper aims to review the driving factors behind IVF failures and the new technologies being utilized to improve IVF outcomes, while also outlining novel experimental approaches to address these challenges. While morphology, morphokinetics, time-lapse imaging, and embryo biopsy have all been studied to assess embryo quality, no method has proven to be uniquely effective in improving the outcomes of IVF treatments. Single-cell whole genome sequencing will be evaluated to determine if this alternative approach can provide better information about early embryonic events that may impede embryo viability in vivo. Conversion of human embryonic stem cells (hESCs) into human extended pluripotent stem cells (hEPS) will also be undertaken. Co-culture of hEPS cells with cells derived from human embryo trophectoderm biopsies will support further investigation of early embryonic events at the cellular level, as well as of culture conditions that could facilitate long-term culture of human embryonic trophectoderm cells. Ultimately, the results of both approaches will be used to improve outcomes for patients seeking successful IVF treatment and pregnancy.