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Pregnancies in Gaucher disease: a 5-year study
Yonatan Elstein1, Vered Eisenberg, Sorina Granovsky-Grisaru
1Gaucher Clinic and the Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
American Journal of Obstetrics and Gynecology
|February 26, 2004
Summary
Pregnancy outcomes in Gaucher disease show similar live birth rates for enzyme-treated and untreated women. Enzyme therapy for Gaucher disease may increase postpartum bleeding and infections, necessitating hematologic consultation.
Area of Science:
- Reproductive Medicine
- Rare Diseases
- Hematology
Background:
- Gaucher disease is a rare genetic disorder.
- Pregnancy in Gaucher disease presents unique challenges.
- Enzyme replacement therapy (ERT) is a treatment for Gaucher disease.
Purpose of the Study:
- To investigate pregnancy outcomes in women with Gaucher disease.
- To compare outcomes between enzyme-treated and untreated pregnant women.
- To identify potential risks and complications associated with pregnancy and ERT in Gaucher disease.
Main Methods:
- Retrospective study of pregnant women with Gaucher disease.
- Evaluation of data from a referral clinic.
- Comparison of live birth rates, spontaneous abortions, postpartum bleeding, infections, and mode of delivery between treated and untreated groups.
Main Results:
- Live birth rates were 78.3% in treated and 86.0% in untreated women.
- Postpartum bleeding occurred in 4 pregnancies per group; 7 required transfusions.
- Postpartum infections were more prevalent in enzyme-treated women.
- No Gaucher disease exacerbation, except one bone crisis.
Conclusions:
- Untreated women with milder Gaucher disease often had uncomplicated pregnancies.
- Enzyme-treated women (typically with more severe disease) experienced increased postpartum bleeding and infections.
- Few spontaneous abortions occurred in enzyme-treated patients.
- Hematologic consultation is recommended for pregnant women with Gaucher disease.