Prenatal Diagnosis of Recurrent Alkuraya-Kučinskas Syndrome: A Rare Case Report

Alkuraya-Kučinskas syndrome (AKS) is a rare autosomal recessive disorder characterized by severe brain malformations, arthrogryposis, and multiple system abnormalities. We present a case of recurrent AKS in a 24-year-old woman with consanguineous marriage history who previously had one pregnancy terminated due to AKS. First-trimester ultrasound revealed cystic hygroma and limb contractures. Chorionic villus sampling (CVS) confirmed homozygosity for the BLTP1 gene variant c.13042C>T p.(Arg4348Ter), consistent with AKS. After genetic counseling, the pregnancy was terminated; postmortem examination and genetic analysis of fetal tissue reconfirmed the diagnosis. This case highlights the importance of early prenatal diagnosis in recurrent genetic disorders, demonstrates the ultrasonographic features enabling first-trimester detection, and underscores the value of comprehensive preconception genetic counseling in consanguineous families with a history of genetic disorders.