Fetal Expression of Pontocerebellar Hypoplasia Linked to Pathogenic COASY Variants

These cases highlight the severe fetal phenotype of PCH12, characterized by cerebellar and brainstem hypoplasia, microcephaly, and neurodegeneration. The recurrence of this lethal condition in a consanguineous family underscores the importance of molecular diagnosis for early detection and genetic counseling. Preimplantation genetic testing for future pregnancies and cascade testing of extended family members are essential in such populations. Our antenatal report emphasizes the need for a multidisciplinary approach to the diagnosis and management of PCH12.