Awareness and knowledge of obstetricians about prenatal findings of inherited metabolic disorders

产科医生对遗传性代谢疾病产前表现的认识和了解

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Abstract

This study aimed to assess obstetric healthcare providers’ awareness and knowledge of IMDs and their prenatal manifestations. Participants were surveyed using an online questionnaire about clinical and imaging features observed in fetuses and neonates with IMDs, their approach to clinical management when an IMD is suspected in the fetus, and the management of pregnant women with IMDs. 270 obstetricians participated, with a mean age of 32.5 ± 7.1 years. Most participants (81.5%) had less than 5 years of experience. The more experienced group was more likely to consider their knowledge of antenatal IMD diagnosis and follow-up to be adequate (p = 0.015). Participants in the educated group believed that IMDs could present symptoms during the intrauterine period (p = 0.003). Improving obstetricians’ awareness about IMDs to optimize prenatal counseling, referral, and perinatal planning is crucial. Theoretical and practical training in IMDs should be incorporated into obstetrics residency programs to enable timely diagnosis and early treatment initiation.

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