Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey

Heather Lau, Nadia Belmatoug, Patrick Deegan, Ozlem Goker-Alpan, Ida Vanessa D. Schwartz, Suma Shankar, Zoya Panahloo, Ari Zimran

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Gaucher disease (GD) may worsen during pregnancy, leading to the discussion of continuing treatment during pregnancy. We examined fetal outcomes of pregnancies reported in the Gaucher Outcome Survey, an international GD-specific registry established in 2010. A total of 453 pregnancies were reported. Most pregnancies (336/453, 74.2%) were in women who did not receive GD-specific treatment during pregnancy, while enzyme replacement therapy (ERT) was received during 117/453 (25.8%) pregnancies. No pregnancies exposed to substrate reduction therapy were reported. The percentage of normal outcomes (live birth delivered at term with no congenital abnormalities) was similar in untreated and treated pregnancies (92.9% vs. 91.4%). The percentage of spontaneous abortions in untreated pregnancies was 3.6% (95% CI, 1.9%– 6.2%) compared with 6.9% (95% CI, 3.0%–13.1%) in treated pregnancies (p = 0.1866). In women who received velaglucerase alfa < 1 month prior to conception and/or during pregnancy, 34/36 (94.4%) pregnancies had normal outcomes and 2 (5.6%) ended in spontaneous abortion. Normal outcomes were observed in the 20 pregnancies with velaglucerase alfa exposure starting < 1 month prior to conception and continuing through all trimesters. These observations, in addition to information in the literature, suggest that continuation of ERT during pregnancy may be appropriate for GD patients.

Original languageEnglish (US)
Pages (from-to)226-231
Number of pages6
JournalBlood Cells, Molecules, and Diseases
StatePublished - Feb 1 2018
Externally publishedYes


  • Enzyme replacement therapy
  • Gaucher disease
  • Pregnancy
  • Velaglucerase alfa

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology


Dive into the research topics of 'Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey'. Together they form a unique fingerprint.

Cite this