167 - Challenges Faced by Newborns with Inherited Metabolic Disorders and Their Mothers During Antepartum, Intrapartum, and Postpartum Periods

Publication Number: 167.4303

Merve Koç Yekedüz, Ankara University, ankara, Ankara, Turkey; Gözde Nur Yağci, Children's Hospital & Medical Center, Ankara, Ankara, Turkey; İlknur Sürücü Kara, Ankara Üniversitesi, Ankara, Ankara, Turkey; Merve Evgin, Ankara University School of Medicine Department of Pediatrics, Ankara, Ankara, Turkey; Engin Köse, Ankara University, Ankara, Ankara, Turkey; Tuba Eminoglu, ankara university, Ankara, Ankara, Turkey

Background: Inherited metabolic disorders (IMDs) present with a range of obstetric challenges, and early prenatal diagnosis is essential for the management of both maternal and fetal health.

Objective: The present study investigates the prenatal and perinatal profiles associated with IMDs and explores the obstetric outcomes in affected pregnancies.

Design/Methods: A retrospective analysis of the records of 996 patients with IMDs who were followed by the Ankara University Faculty of Medicine was carried out for an assessment of their socio-demographic characteristics, disease-specific features and any complications that occurred during the antepartum, intrapartum and postpartum periods.

Results: The most frequently observed antepartum issues identified among patients with IMDs in the study were intrauterine growth restriction (IUGR), intrauterine microcephaly and oligohydramnios. It was notable that mitochondrial disorders were associated with a significantly higher incidence of oligohydramnios than other IMD diagnoses (30% vs. 1.7%, p=0.01) and a markedly increased occurrence of IUGR (13.7% vs. 2.4%, p < 0.001). 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. Microcephaly was most prevalent in the mitochondrial disease group, occurring significantly more often than in other groups (11.0% vs. 1.9%, p < 0.001), and intrauterine cardiac issues were notably higher in the mitochondrial disease group (3.6% vs. 0.6% in other groups, p=0.002). Finally, the mothers of newborns with mitochondrial diseases developed significantly more complications during previous pregnancies than those with other diagnoses (11.9% vs. 6.5%, p=0.04).

Conclusion(s): The study underscores the critical importance of early prenatal evaluations for the identification of IMDs, the early diagnosis of which is vital for the development of effective management strategies and improved outcomes for both the mother and infant. Identifying the risk factors and potential complications can facilitate the early, timely, and effective initiation of treatment, significantly improving the health outcomes for both the mother and the affected infant.