Abstract
CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1?:?8500 to 1?:?10,000. The only known genetic etiology for CHARGE syndrome is CHD-7, which accounts for up to 65% of cases. Prenatal diagnosis can be made using ultrasound and amniocentesis for CHD-7 molecular genetic testing. Postnatal management should consist of a multidisciplinary team approach to correct structural defects and assess and treat developmental and cognitive impairments.
Original language | English (US) |
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Title of host publication | Obstetric Imaging |
Subtitle of host publication | Fetal Diagnosis and Care: Second Edition |
Publisher | Elsevier Inc. |
Pages | 541-543.e1 |
ISBN (Electronic) | 9780323497367 |
ISBN (Print) | 9780323445481 |
DOIs | |
State | Published - Jan 1 2018 |
Keywords
- CHARGE syndrome
- CHD-7
- Choanal atresia
- Multiple congenital malformations
ASJC Scopus subject areas
- Medicine(all)