Date of Award


Document Type

Thesis - Open Access

Degree Name

MS in Human Genetics

First Advisor

Janelle Villiers, MS, CGC

Second Advisor

Amber Gamma, MS, CGC


Elective oocyte cryopreservation (EOC) is a process involving freezing and banking oocytes with the intention to be used in the future for pregnancy. Cryopreserving oocytes allows women to enhance their reproductive autonomy by reducing the effects of age-relatedfertility decline. Similarly, expanded carrier screening (ECS) completed prior to conception allows women to consider their full range of reproductive options including in-vitro fertilization (IVF) with preimplantation genetic testing (PGT), use of donor gametes, and prenatal testing and diagnosis. In this retrospective chart review, we examine carrier screening practices for 106 EOC patients, and an age-matched control group of 106 IVF patients who presented to an academic fertility clinic in 2019. Between the two patient groups, more IVF patients underwent expanded carrier screening (p=0.008) compared to the EOC group (94.3% versus 62.3%). We also examined the breakdown of expanded carrier screening between patient groups per each of the nine physicians working in the clinic. Two physicians were more likely to order ECS for their IVF patients than their EOC patients (p=.004 and p<.001), while two other physicians were less likely to order ECS for their EOC patients than their colleagues (p<.001 and p=.008). A possible explanation for the variations in ECS offerings is the difference of opinion surrounding clinical utility for EOC and IVF patients. Providers should carefully consider the benefits and limitations when offering ECS to their fertility patients, and further study and guidance from professional medical organizations may help to standardize practice across the field.