P754: Deep fetal phenotyping of "isolated” micrognathia significantly increases genetic diagnosis
Abstract
Micrognathia occurs in about 1 in 1,500 births and can be isolated or associated with an underlying genetic syndrome or other anomalies. However, prenatal ultrasound alone may not be sufficient to identify other abnormalities. This study aims to evaluate the added utility of comprehensive fetal ultrasound and MRI for deep fetal phenotyping of apparently isolated micrognathia to aid genetic diagnosis for pregnancy management and decision-making.
Fields of Study & Subjects
Prenatal Screening and Diagnostics
Fetal and Pediatric Neurological Disorders
Craniofacial Disorders and Treatments
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104246–104246
- Publication date
- 1 January 2026
- Language
- EN