DOI: https://doi.org/10.36347/sjmcr.2025.v13i07.012

Pages: 1574-1577

Objective: To report a case of semi-lobar holoprosencephaly (HPE) diagnosed at term in the context of an unmonitored diabetic pregnancy, emphasizing the importance of early prenatal screening. Case Report: A primigravida with poorly controlled type 1 diabetes and no structured prenatal care was admitted in preterm labor at 36 weeks. An emergency ultrasound revealed intrauterine growth restriction, microcephaly, and semi-lobar HPE with major facial dysmorphism (hypotelorism, single nostril). The infant was delivered vaginally. At birth, the newborn exhibited profound clinical signs of life-threatening instability and died within 12 hours. Karyotype was normal. Conclusion: Semi-lobar HPE is a severe congenital brain malformation often associated with craniofacial anomalies and poor prognosis. This case highlights the critical role of prenatal ultrasound in early detection, especially in high-risk pregnancies, allowing timely counseling, multidisciplinary management, and the consideration of medical termination in severe cases.