Managing Pregnancy in Inherited Metabolic Disorders: Experience From a Single Tertiary Metabolic Center

Area of Science:

• Reproductive Medicine
• Metabolic Disorders
• Genetics

Background:

• Improved newborn screening and critical care increase survival of individuals with inherited metabolic disorders (IMDs) into adulthood and reproductive age.
• Limited evidence exists for pregnancy management in women with IMDs, with clinical practice relying on case reports and expert opinions.
• A growing population of women with IMDs are reaching reproductive age, necessitating evidence-based care guidelines.

Purpose of the Study:

• To evaluate pregnancy outcomes in women with inherited metabolic disorders (IMDs).
• To assess metabolic management strategies during pregnancy for women with IMDs.
• To address the critical gap in evidence-based care for this unique patient group.

Main Methods:

• Retrospective, single-center study.
• Included female patients aged 15-49 years with genetically confirmed IMDs.
• Focused on patients who initiated treatment before conception and had given birth.

Main Results:

• Seven pregnancies in six women were analyzed.
• Successful individualized peripartum management was noted in glutaric aciduria type I.
• Enzyme replacement therapy was safely continued in Gaucher disease.
• A congenital heart defect was identified in an infant of a mother with tyrosinemia type II.
• One case of fatal metabolic decompensation occurred following a miscarriage in a patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

Conclusions:

• Successful pregnancies are achievable for women with IMDs.
• Severe maternal complications and fetal anomalies remain a risk.
• There is an urgent need for structured adult care pathways and disease-specific pregnancy management strategies.