AI Article Synopsis
- * Prenatal diagnosis is crucial for confirming CHARGE syndrome, although it’s often not achieved, leading to significant implications for patient care.
- * A case study highlighted the importance of identifying fetal ear abnormalities via ultrasound, which led to postnatal diagnosis and the discovery of a specific genetic mutation linked to the disorder.
Article Abstract
Key Clinical Message: CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder. This is significant because the patient may receive genetic counseling and appropriate disposal based on the accurate diagnosis.
Abstract: CHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10948373 | PMC |
| http://dx.doi.org/10.1002/ccr3.8670 | DOI Listing |
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