Prenatal Diagnosis of Recurrent Alkuraya-Kučinskas Syndrome: A Rare Case Report.
Meltem Caliskan, Fulya Sultan Karaduman, Ece Keskin et al.
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Case in brief
A 24-year-old woman in a consanguineous marriage, with a previous pregnancy terminated after diagnosis of Alkuraya-Kučinskas syndrome (AKS), had first-trimester ultrasound findings of cystic hygroma and limb contractures in a subsequent pregnancy. Chorionic villus sampling identified homozygosity for the BLTP1 variant c.13042C>T p.(Arg4348Ter), consistent with recurrent AKS. Following genetic counseling, the pregnancy was terminated. Postmortem examination and genetic analysis of fetal tissue reconfirmed the diagnosis.
What made this case unusual
The combination of cystic hygroma and limb contractures enabled suspicion of recurrent AKS on first-trimester ultrasound, with the diagnosis then confirmed by targeted genetic testing.
Diagnostic / clinical pearl
In a pregnancy with a history of AKS, first-trimester cystic hygroma and limb contractures can prompt prenatal genetic testing; chorionic villus sampling confirmed the diagnosis in this case.
Why it matters
The case underscores the role of preconception genetic counseling in consanguineous families with a history of genetic disorders.