P233: Evaluating the diagnostic yield of universal whole genome sequencing for patients with congenital heart defects in the cardiac ICU
Abstract
Congenital heart defects (CHD) are a common congenital anomaly and a leading cause of neonatal mortality. About 20% of congenital heart defects are accompanied by other congenital anomalies, while the other 80% remain isolated. Even in ostensibly isolated cases, genetic testing can reveal monogenic causes of isolated CHD or identify syndromic conditions before additional features become clinically apparent. A timely and accurate genetic diagnosis can inform medical management and surveillance, reduce the need for unnecessary investigations, and offer families valuable information about prognosis, recurrence risk, and anticipatory guidance.
Fields of Study & Subjects
Genomics and Rare Diseases
Congenital Heart Disease Studies
Congenital heart defects research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103727–103727
- Publication date
- 1 January 2026
- Language
- EN