Pregnancy in patients with mucopolysaccharidosis: A case series

Fiona J. Stewart*, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R. Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Sue Graham, Stephen Sande, Zlatko Sisic, Tracey A. Johnston

*Corresponding author for this work

Research output: Contribution to journalArticle

7 Scopus citations


The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointestinal abnormalities. As a result of improvements in diagnosis, multi-disciplinary care, and therapies such as enzyme replacement therapy and hematopoietic stem cell transplantation, an increasing number of patients with MPS are reaching adulthood and are involved in family planning. Data on fertility and pregnancy outcome in MPS is sparse and comprises primarily isolated case reports. To address this evidence gap, we present a case series on fertility and pregnancy in eight mothers and five fathers with MPS. This case series demonstrates that women with MPS have high-risk pregnancies and deliveries secondary to their underlying disease. However, with appropriate pre-conceptual multi-disciplinary evaluation, optimization and discussion regarding potential risks, combined with regular multi-disciplinary maternal and fetal surveillance in a tertiary center, the outcome of most pregnancies in this case series seems to be favorable with all babies developing normally. Partners of fathers with MPS had uncomplicated pregnancies and deliveries. All children were healthy, with normal growth and development.

Original languageEnglish (US)
Pages (from-to)111-115
Number of pages5
JournalMolecular Genetics and Metabolism Reports
StatePublished - Sep 1 2016


  • Elosulfase alfa
  • Enzyme replacement therapy
  • Mucopolysaccharidoses
  • Pregnancy

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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    Stewart, F. J., Bentley, A., Burton, B. K., Guffon, N., Hale, S. L., Harmatz, P. R., Kircher, S. G., Kochhar, P. K., Mitchell, J. J., Plöckinger, U., Graham, S., Sande, S., Sisic, Z., & Johnston, T. A. (2016). Pregnancy in patients with mucopolysaccharidosis: A case series. Molecular Genetics and Metabolism Reports, 8, 111-115.