Amy Knight

CAPSTONE

Capstone Project Committee: Rachel Mills, M.S., CGC; Paulina Nassab, M.S., CGC; Lindsey Umstead, Ph.D.

Carriers of balanced chromosomal translocations can experience adverse reproductive outcomes due to malsegregation of gametes, at times resulting in couples seeking in vitro fertilization (IVF) as a means of reproductive planning. Due to current guidelines around the indications for parental cytogenetic testing, carriers of a balanced translocation may not be diagnosed until they are amidst IVF treatment. The purpose of this study was to explore and describe the impacts of parental balanced translocation carrier diagnosis after one or more rounds of IVF treatment. A survey was created and distributed electronically to participants recruited through identification by genetic counselors of eligible patients and from social media support groups intersecting with our population of interest. A total of 13 eligible participants completed the survey. The majority of respondents agreed to some extent that they experienced negative psychosocial impacts including sadness (n = 13), anxiety (n = 10), and surprise (n = 9). Twelve out of thirteen agreed that they experienced guilt, or they believed their partner experienced guilt after diagnosis. Overall, respondents expressed dissatisfaction with the timing of the parental diagnosis during fertility treatment, and all felt that knowing this diagnosis in advance of treatment would have been beneficial as reproductive planning changed after diagnosis for the majority of respondents (n = 11). Our investigation identifies psychosocial and financial impacts suggesting the need for continued infertility provider support, resources, and counseling around reproductive decision-making in the setting of a parental chromosomal rearrangement. These findings provide additional support for universal parental cytogenetic studies prior to IVF treatment for infertility.

Since Graduation

Shortly after graduation, Amy joined the Wake Forest Baptist Health team as a pediatric genetic counselor where she will be taking on both clinical and lab GC roles. She is looking forward to working with the incredible WFBH genetics team and spending clinic days supporting patients and families in her home state of NC.

On a personal level, Amy and her family of four continue to live in Greensboro, NC where they can routinely be found staking out new playgrounds, parks, and nature walks. Having just graduated, Amy is looking forward to stretching her wings in her new counseling role, enjoying more family time, and trading in homeschooling her children for more time spent baking and in the garden.