Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-up

Abstract Background As the number of individuals with inherited metabolic disorders (IMDs) reaching reproductive age increases, pregnancy poses unique clinical challenges. This study evaluates the metabolic control of mothers, their pregnancy outcomes, and the long-term outcomes of their offspring. Methods This retrospective, single-centre, observational study included ten women with IMDs and their nineteen pregnancies. Maternal characteristics, peripartum metabolic control and treatment adherence were assessed. Long-term paediatric outcomes were evaluated in 16 live-born children. Maternal psychological status was evaluated using the Beck Depression Inventory and Beck Anxiety Inventory. Results The cohort comprised pregnancies in women with disorders of ketone metabolism, organic acidemias, amino acidopathies, urea cycle disorder and glycogen storage disease. Obstetric complications included prematurity in 4 pregnancies (26.7%), being small for gestational age in 4 (25%), and hyperemesis gravidarum in 7 (36.8%). Two patients (10.5%) experienced acute metabolic decompensation. No metabolic crises occurred in pregnancies that received peripartum intravenous dextrose. Although 10 neonate (52.6%) required intensive care, long-term follow-up revealed that nearly all children had achieved normal growth and showed no gross neurodevelopmental abnormality on clinical evaluation. The median duration of breastfeeding was 14.5 (0–48) months. Psychological screening of 7 mothers revealed moderate depression and severe anxiety in 1 mother, and mild symptoms in three others. Conclusion Early diagnosis, preconception management, and close monitoring throughout pregnancy and the peripartum period may contribute to optimize outcomes in women with IMDs. Prospective multicenter studies and registries are essential to establish standardized protocols and evaluate long-term outcomes for both mothers and offspring.