Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I.

Area of Science:

• Reproductive medicine
• Genetics
• Metabolic disorders

Background:

• Hurler-Scheie syndrome, a form of mucopolysaccharidosis 1 (MPS 1), is a rare inherited metabolic disorder.
• Pregnancy in women with MPS 1 presents significant medical challenges due to multisystemic involvement.

Purpose of the Study:

• To report the first case of a successful term pregnancy in a woman with moderate to severe Hurler-Scheie syndrome (MPS 1).
• To highlight the importance of multidisciplinary management in high-risk pregnancies.

Main Methods:

• A 23-year-old primiparous woman with known Hurler-Scheie syndrome received preconception counseling.
• The pregnancy was managed by a multidisciplinary team including maternal-fetal medicine specialists, anesthesiologists, cardiologists, geneticists, and endocrinologists.
• Delivery was achieved via elective cesarean section at 37 weeks gestation.

Main Results:

• The patient successfully carried the pregnancy to term.
• A live male infant was delivered.
• The case represents a successful outcome in a previously unreported scenario.

Conclusions:

• Term pregnancy is achievable in women with Hurler-Scheie syndrome (MPS 1) with meticulous, specialized care.
• Multidisciplinary collaboration is crucial for managing the complexities of pregnancy in patients with MPS 1.
• This case expands the understanding of reproductive possibilities for women with MPS 1.