Genetic testing for congenital heart disease in unborn babies
The Sequencing for Detection in Congenital Heart Disease (SD-CHD) Study
This study is testing if advanced genetic testing can help pregnant people find out more about their unborn babies' congenital heart disease and any related genetic issues to improve care and treatment options.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 200 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | Scripps Translational Science Institute Academic / other |
| Locations | 1 site (San Diego, California) |
| Trial ID | NCT06244940 on ClinicalTrials.gov |
What this trial studies
This study focuses on pregnant individuals diagnosed with congenital heart disease (CHD) in their fetuses at Rady Children's Hospital. It aims to utilize advanced genetic testing methods, including whole genome sequencing, to identify potential genetic disorders that may be associated with CHD. By detecting these genetic conditions prenatally, the study seeks to improve delivery planning, postnatal care, and provide parents with essential information for specialized treatment options. The study addresses the limitations of standard genetic testing methods and aims to enhance diagnostic accuracy for better clinical outcomes.
Who should consider this trial
Good fit: Ideal candidates for this study are pregnant individuals with a prenatal diagnosis of congenital heart disease who are seeking genetic diagnosis.
Not a fit: Patients who may not benefit from this study include those with a gestational age of 38 weeks or greater or those whose clinical condition is fully explained by known chromosomal abnormalities.
Why it matters
Potential benefit: If successful, this study could lead to earlier and more accurate diagnoses of genetic disorders in fetuses with congenital heart disease, improving care and outcomes for affected infants.
How similar studies have performed: Other studies have shown promising results with advanced genetic testing approaches in prenatal settings, indicating potential for success in this novel application.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Pregnant individual with ongoing pregnancy with prenatally detected fetal CHD * Desire for genetic diagnosis and clinical plan for amniocentesis or chorionic villus sampling Exclusion Criteria: * Gestational age of 38 weeks or greater * Clinical course entirely explained by known chromosomal abnormality or confirmed genetic diagnosis that explains the clinical condition * Pregnant persons under 18 years of age
Where this trial is running
San Diego, California
- Rady Children's Institute for Genomic Medicine — San Diego, California, United States (Recruiting)
Study contacts
- Study coordinator: Rebecca Reimers, MD
- Email: rreimers@scripps.edu
- Phone: 858-784-1000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.