The Sequencing for Detection in Congenital Heart Disease (SD-CHD) Study (NCT06244940)
🩺 Plain-English Summary (8th-Grade Level)
This study is enrolling pregnant persons treated at Rady Children's Hospital fetal cardiology program with a prenatal diagnosis of congenital heart disease to look for genetic disorders in the fetus or unborn baby. Congenital heart disease (CHD) is a group of structural differences to the heart that represent the most common birth defect among liveborn infants world-wide. CHD is the leading cause of birth-defect associated infant death. Prenatal detection allows for delivery planning, postnatal repair, specialized medications, and detailed counseling for parents. Up to one in three fetuses with CHD may have a genetic cause. In babies, knowing about genetic diseases helps patients and doctors provide the best care for their babies. If identified prenatally, this same knowledge may help participants prepare for their location of delivery, meet with specialists, and consider specialized treatments and medications that may be appropriate. The diagnostic yield and clinical utility of whole genome sequencing (WGS) in fetuses with prenatally detected congenital heart disease (CHD) will be compared to routine clinical testing in patients choosing amniocentesis or chorionic villus sampling. DNA will be obtained from fetal samples and biological parent blood samples and analyzed according to standard clinical interpretation guidelines. Results will be reported to healthcare providers and patients and measures of clinical utility will be collected. Additionally, measures of stress, anxiety, depression, and perceived utility of information will be assessed by validated survey tools. A historical cohort of patients electing for diagnostic procedures will be used as a comparison population.
Who can join: Review the eligibility criteria below.
Location: Rady Children's Institute for Genomic Medicine — San Diego, California
Age range: 18 Years
🧪 Interventions in This Study
- Whole Genome Sequencing (WGC) from subject samples (DIAGNOSTIC_TEST)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (1 Sites)
- Rady Children's Institute for Genomic Medicine — San Diego, California
📞 Contact the Study Coordinator
Phone: (858) 784-1000
Email: rreimers@scripps.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Congenital Heart Disease
- Technical Development for Pediatric Cardiovascular MRI — Washington D.C., District of Columbia
- Harmony TPV Post-Approval Study — Birmingham, Alabama
- The Medtronic Harmony™ Transcatheter Pulmonary Valve Clinical Study — Los Angeles, California
- Autus Valve Pivotal Study — Los Angeles, California
- Peer Coaching Intervention in Young Adults With Congenital Heart Disease — Durham, North Carolina
- SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure — Toronto, Ontario
Explore by condition: All Congenital Heart Disease clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.