Kate Watson

Capstone

Capstone Project Committee: Blythe Crissman, MS, CGC, Sonja Eubanks, MS, CGC, Priya Kishnani, MD

Introduction: Patients with Type I Gaucher disease may exhibit an exacerbation of symptoms during pregnancy and post-partum complications.  Few investigations have reported the safety and efficacy of enzyme replacement therapy for patients with Type I Gaucher disease during a pregnancy.  The purpose of this study is to report pregnancy outcomes of patients with Type I Gaucher disease both on and off enzyme replacement therapy and offer recommendations based on our clinical experience for pregnancy management.

Methods: The medical records of nine participants with Type I Gaucher disease, some of which received enzyme replacement therapy during a pregnancy, were reviewed.  Participants were later contacted for a follow-up interview.  Data collected included: age of diagnosis, symptoms of Gaucher disease before and during pregnancy, pregnancy and postpartum complications, enzyme replacement status during pregnancy, and newborn health.  Data was organized into individual case reports.

Results: Twenty-three pregnancies were investigated resulting in the birth of seventeen healthy infants.  Participants treated with enzyme replacement therapy during pregnancy experienced fewer pregnancy and postpartum Gaucher-related complications than those who were not.

Conclusions: We recommend women that require enzyme replacement therapy before becoming pregnant continue enzyme replacement therapy during the pregnancy in order to reduce the risk of bone pain/crisis and postpartum bleeding and infection.

Since Graduation

After graduating from UNGC in 2008, Kate Hanauer began working as a prenatal genetic counselor with Novant Maternal Fetal Medicine in Charlotte, NC and remained there until 2018. During that time, she married and had two sons. In 2018, Kate accepted a position as Product Manager with PerkinElmer Genomics, giving her a wealth of new experiences on the industry side of genetic testing as well as an education on whole genome sequencing. As Product Manager, she lead sales trainings, gave lectures to clients, created marketing materials and planned trade shows. She also authored several posters presented at ACMG and NSGC. After a year in industry, Kate realized her most satisfying work experiences came from direct patient care. Therefore, she returned to prenatal genetic counseling in 2019! She is currently employed by Integrated Genetics and leads a team of four prenatal genetic counselors in Charlotte-most of which work with the same excellent group with whom her career started-Novant Maternal Fetal Medicine. Her current clinical focus is on fetal ultrasound anomalies as well as mosaic embryo transfer. She also serves a consultant for the local perinatal hospice group. Kate currently lives in Fort Mill, SC with her husband and 5 and 2 year old sons.