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

ABSTRACT

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.