A preterm female neonate was born to a 20-year-old primiparous woman with a history of second degree consanguineous marriage, septic abortion, PCOS and hypothyroidism at 34 weeks of gestation. Prenatal screenings were negative for trisomies and major genetic abnormalities. Postnatal neuro imaging revealed agenesis of the corpus callosum (ACC), a rare congenital malformation. Despite the absence of advanced maternal age. The neonate required neonatal intensive care unit (NICU) support and was placed on continuous positive airway pressure (CPAP) for respiratory assistance. During NICU management, the neonate displayed poor heart and respiratory function and a multidisciplinary care approach was implemented. This case highlights the significance of thorough prenatal and postnatal monitoring in consanguineous pregnancies, even in young mothers with atypical maternal histories, and emphasises the need for specialised care in such cases.
Keywords: Preterm Infant, Agenesis of corpus callosum, Consanguinity, Congenital malformations, Prenatal screening, Postnatal neuroimaging, Maternal hypothyroidism
