Genetic Counseling Program

Untitled Document

A Medical Records Review of Pregnancy Outcomes of Patients with Type I Gaucher Disease Either On or Off Enzyme Replacement Therapy.  By Kate Watson

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.

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  • "I chose to attend UNCG because of its shared learning environment and the access to some of the leading institutions in the country. "



  • "UNCG is a great fit for me. The program directors have extensive experience in the world of genetic counseling and provide you with opportunities to work with some of the best medical centers in the country. Our location allows us to have expert guest lecturers, many of whom you also get to work alongside or observe in your clinical rotations in your second year. We also have some really wonderful and unique opportunities as a part of this program: we observe in syndrome specific support groups and clinics, tour genetic laboratories, and are matched with a family with a genetic disease to learn what it is like to live with a genetic condition. Finally, our directors are genuinely invested in each of us, and care about our success and getting to know each of us personally."




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