Genetic Counseling

School of Health and Human Sciences

Kate WatsonA Medical Records Review of Pregnancy Outcomes of Patients with Type I Gaucher Disease Either On or Off Enzyme Replacement Therapy
Capstone Project Committee: 
Blythe Crissman, MS, CGC, Sonja Eubanks, MS, CGC, Priya Kishnani, MD
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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