Pregnancy in patients with mucopolysaccharidosis: a case series

Abstract

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.

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

“…This may be because of either small maternal pelvis size or the position of the baby, but it is also important to consider the risk of a patient with MPS requiring an emergency general anaesthetic (25).…”

“…(23) Although the transition process is a vital stage in supporting patients with MPS as they move towards increased independence, it is key to remember that patients have a progressive disease and the establishment of appropriate, individualised care plans in the adult setting is of great importance. Furthermore, an increasing number of patients with MPS are having children (24,25). This may impose additional life-threatening situations during pregnancy and caesarean sections, which are required to compensate for short stature and skeletal abnormalities (25).…”

“…Furthermore, an increasing number of patients with MPS are having children (24,25). This may impose additional life-threatening situations during pregnancy and caesarean sections, which are required to compensate for short stature and skeletal abnormalities (25).…”

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

“…There is little information about the safety of ERT during pregnancy and lactation. In the very few cases reported, no adverse effects of ERT on pregnancy and on breastfed infants have been observed in any of treated patients with MPSI, MPS IV, and MPS VI [209,210].…”

Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

“…Pregnancy and multiple gestations of those with Morquio A syndrome have been previously reported, and Patient 2 may be the youngest known woman with MPS IVA to give birth to children via cesarean section twice (Jezela‐Stanek et al, ; Stewart et al, ). Patient 2's only reported complication of the pregnancies was back pain, a known perioperative anesthesia issue likely attributed to the musculoskeletal abnormalities and body habitus (Delgado et al, ).…”