Outcomes and experiences of genetic testing in children with congenital heart disease
Cytogenetic testing remains an important first-tier test in CHD. Furthermore, molecular testing guided by a clinical geneticist generates a high rate of genetic diagnoses. Parents of children with CHD value genetic testing with little regret.
Authors
- D. Hilton
- Gillian M. Blue (ORCID: https://orcid.org/0000-0002-1480-9535)
- Bruce Bennetts (ORCID: https://orcid.org/0000-0001-5598-0278)
- Janine Smith (ORCID: https://orcid.org/0009-0009-8187-6824)
- Bridget R. O’Malley (ORCID: https://orcid.org/0009-0000-4100-6167)
- Gary F. Sholler (ORCID: https://orcid.org/0000-0003-1501-8898)
- A. Morrish
- A Webb
Institutions
- The University of Sydney (AU)
- Cerebral Palsy Alliance (AU)
- Sydney Children's Hospital (AU)
- Sydney Children’s Hospitals Network (AU)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1136/jmg-2024-110553
- Citations
- 3
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- NSW Health