VAI TRÒ CỦA EXOME TRONG BỆNH CỨNG KHỚP BẨM SINH

Abstract

Background: Arthrogryposis multiplex congenita is a rare congenital condition that can lead to severe complications. It is characterized by abnormal fetal limb positioning and restricted movement resulting from contractures affecting two or more joints. The underlying causes of this disorder remain unclear, and determining the role of the exome in arthrogryposis is essential for better understanding its pathogenesis. Objective: Description of the manifestations and exome sequencing results of fetuses diagnosed with congenital arthrogryposis. Methods: A retrospective description of pregnant women who presented to the UMC with a diagnosis of fetal congenital arthrogryposis from 2019 to 2024. Results: The primary ultrasound manifestations of arthrogryposis multiplex congenita include: clubhand, clubfoot, a fixed position of the elbows (flexed/extended), a fixed position of the knees (flexed/extended), and reduced or absent fetal movements,…In 100% of the cases in the study, pathogenic gene variants were identified through exome sequencing (G4500/WES). Conclusions: Gene mutations in the exome may be the cause of arthrogryposis multiplex congenita. Prenatal ultrasound is a tool to detect the phenotypic manifestations of the disorder, exome sequencing (G4500/WES) enables the identification of disease-associated variants.