Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report
Year: 2026
Type: article
Study design: Case Report
Abstract: CHARGE syndrome is a rare genetic, multisystem disorder with a number of malformations associated with coloboma, heart defects, choanal atresia, retardation of growth and/or development, genitourinary malformation and ear abnormalities.The primary causes of CHARGE syndrome are mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene.Therefore, the present report outlines the case of a fetus with a variety of ultrasound findings, including persistent left superior vena cava (LSVC), delay in the fusion of the cerebellar vermis, inferior vermis hypoplasia and borderline mega cisterna magna (MCM).Fetal exome sequencing revealed the presence of the novel c.2836-3C>G splicing mutation in CHD7, which was classified to be likely pathogenic.Genetic testing of the parents showed that neither were carriers of the mutation, suggesting a de novo origin.Due to the poor prognosis resulting from the combination of clinical findings and the identification of the novel, likely pathogenic mutation, the couple opted for pregnancy termination following genetic counseling.The present report includes the description of the fetal sonographic features and MRI findings.To the best of our knowledge, this is the first documented case of persistent LSVC and borderline MCM observed in a fetus with CHARGE syndrome.Since prenatal diagnosis of CHARGE syndrome is rare, the present report may serve as a valuable reference for evaluating similar findings in other prenatal cases.
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7220897116