Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report.
8 affiliations
- 1Access to Genome P.C., Clinical Laboratory Genetics, 11527 Athens, Greece.
- 2Department of Ultrasound and Fetal Medicine, REA Maternity Hospital, 17564 Athens, Greece.
- 3Department of Diagnostic and Interventional Radiology, IASO Maternity Hospital, 15123 Athens, Greece.
- 4Department of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece.
- 5Third Department of Obstetrics and Gynecology, General University Hospital 'Attikon', 12462 Athens, Greece.
- 6Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital of Giessen and Marburg, Campus Giessen, D-35385 Giessen, Germany.
- 7Department of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy.
- 8Department of Biomedical Sciences, University of West Attica, 12243 Athens, Greece.
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.
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BibTeX
@article{papageorgiou2026prenatal,
title = {{Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report.}},
author = {Elena Papageorgiou and Christina Keramida and Elissavet Siomou and Chrisoula Eustathiadou and Michail Rotas and Chrysanthi Chlapoutaki and Sotirios Sotiriou and Georgios-Konstantinos Papaioannou and Marios Mamalis and Sandro Orru and Emmanouil Manolakos and Ioannis Papoulidis},
journal = {Experimental and therapeutic medicine},
year = {2026},
month = oct,
doi = {10.3892/etm.2026.13331},
url = {https://europepmc.org/article/MED/42948634},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Prenatal diagnosis of CHARGE syndrome in a fetus with a novel CHD7 splicing mutation: A case report.
AU - Elena Papageorgiou
AU - Christina Keramida
AU - Elissavet Siomou
AU - Chrisoula Eustathiadou
AU - Michail Rotas
AU - Chrysanthi Chlapoutaki
AU - Sotirios Sotiriou
AU - Georgios-Konstantinos Papaioannou
AU - Marios Mamalis
AU - Sandro Orru
AU - Emmanouil Manolakos
AU - Ioannis Papoulidis
PY - 2026
DA - 2026/10/08
JO - Experimental and therapeutic medicine
DO - 10.3892/etm.2026.13331
UR - https://europepmc.org/article/MED/42948634
AB - 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.
SN - 1792-0981
SN - 1792-1015
ER -