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Date of Award


Document Type

Thesis - Campus Access Only

Degree Name

MS in Human Genetics

First Advisor

Laura Hercher


Preimplantation genetic testing is a screening tool used by clinicians during in vitro fertilization to inform prospective parents about the genetic composition of their embryos prior to transfer selection. The development of PGT for monogenic disorders allows for the identification of embryos with or without specific genetic variants. This technology was originally used by known carriers or affected individuals at increased risk of having a child with a serious, childhood-onset disorder. The use of PGT-M has expanded to include cancer predisposition syndromes, cardiac disease, human leukocyte antigen matching, and hundreds of other inherited conditions or susceptibilities. Aside from a few anecdotal reports, there remains a lack in published evidence about the current use of PGT-M. Combining chart review and data from an internal database at a single, academic reproductive care center, we were able to identify trends in the use of PGT-M. Our study examined patient information from 1245 IVF cycles comprising 646 unique cases wherein PGT-M was performed from 2004 to 2021. Deidentified patient data allowed us to infer the reason for the use of PGT-M. In most instances, the data suggest that the growth of carrier screening and genetic testing have been likely drivers for the growth in use of PGT-M. From 2004 to 2021, use of PGT-M as a percentage of all IVF cycles increased from less than 1% to 7.44%. From 2014 to 2021, the practice saw a 295.65% increase in patients using PGT-M. This significant growth demonstrates how the practice and patient care has changed.