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- Title
Type‐I umbilical–systemic shunt with abnormal connection to azygos vein in fetus with de‐novoTBX5 mutation related to Holt–Oram syndrome.
- Authors
Achiron, R.; Har‐Toov, J.; Kivilevitch, Z.
- Abstract
This article discusses a case study of a fetus with a Type-I umbilical-systemic shunt (USS) and an abnormal connection to the azygos vein. The fetus also had a de-novo TBX5 mutation related to Holt-Oram syndrome, as well as a celiacomesenteric trunk variant. The article describes the ultrasound findings and genetic analysis of the fetus, as well as the subsequent pregnancy and neonatal outcomes. The authors emphasize the importance of thorough exploration of the portal system and other vascular anomalies in diagnosing umbilical system abnormalities, and recommend extending genetic evaluations beyond routine tests. They also discuss the variability of phenotypic expression in Holt-Oram syndrome and the significance of genetic information for medical follow-up and family planning.
- Subjects
VEINS; FETUS; VENA cava inferior; SYNDROMES; GENETIC mutation
- Publication
Ultrasound in Obstetrics & Gynecology, 2024, Vol 63, Issue 5, p709
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.27580