Research Information System
Fetal and Pediatric Pathology, vol.44, no.1, pp.53-62, 2025 (SCI-Expanded)
Inherited metabolic disorders (IMDs) pose various obstetric challenges. In this study investigates the prenatal and perinatal profiles of pregnancies affected by IMDs and examines their obstetric outcomes. The most frequently observed antepartum issues identified among 996 patients with IMDs were intrauterine growth restriction (IUGR), intrauterine microcephaly and oligohydramnios. It was notable that mitochondrial disorders are associated with increased incidence of oligohydramnios (p = 0.010), IUGR (p < 0.001), microcephaly (p < 0.001) and intrauterine cardiac issues (p = 0.002). Furthermore, the incidence of intrauterine and natal facial malformations was significantly elevated in the patient groups with mitochondrial (p < 0.001) and lysosomal/peroxisomal diseases (p = 0.037) when compared to the other IMD groups. The mothers of newborns with mitochondrial diseases developed significantly more complications during previous pregnancies than those with other diagnoses (p = 0.040). Identifying risk factors and complications early on can greatly improve outcomes for both mother and infant by facilitating timely intervention and treatment.