Pregnancy in patients with mucopolysaccharidosis: a case series.
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.
Belfast City Hospital, Belfast, Northern Ireland, UK.
Fiona J
FJ
Stewart
University Hospital South Manchester MPS IHSNHS Foundation Trust, Manchester, UK.
Andrew
A
Bentley
Lurie Children's Hospital, Chicago, IL, USA.
Barbara K
BK
Burton
Hôpital Femme Mère Enfants, Lyon, France.
Nathalie
N
Guffon
Seattle Children's Hospital, Seattle, WA, USA.
Susan L
SL
Hale
UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Paul R
PR
Harmatz
Institute of Medical Chemistry and Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Susanne G
SG
Kircher
Central Manchester University Hospitals, Manchester, UK.
Pavan K
PK
Kochhar
Montreal Children's Hospital, Montréal, Québec, Canada.
John J
JJ
Mitchell
Charité - Universitätsmedizin Berlin, Berlin, Germany.
Ursula
U
Plöckinger
BioMarin Pharmaceutical Inc., Novato, CA, USA.
Sue
S
Graham
BioMarin Pharmaceutical Inc., Novato, CA, USA.
Stephen
S
Sande
BioMarin Europe Limited, London, UK.
Zlatko
Z
Sisic
Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Tracey A
TA
Johnston
ERT, enzyme replacement therapy; Elosulfase alfa; Enzyme replacement therapy; GAG, glycosaminoglycan; HSCT, hematopoietic stem cell transplantation; MPS, mucopolysaccharidosis; Mucopolysaccharidoses; Pregnancy