Clinical Trial

The Sequencing for Detection in Congenital Heart Disease (SD-CHD) Study

Recruiting
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Record status
This record was last updated February 13, 2024 (before its estimated April 1, 2026 completion). Its status may not reflect the trial's current state.
Summary
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.
Protocol Amendment History 1 amendment
This ClinicalTrials.gov record has been amended once since 2024-01-29.
Status change: Not Yet Recruiting → Recruiting 2024-02-09
Trial Details
NCT Number NCT06244940
Lead Sponsor Scripps Translational Science Institute
Conditions Congenital Heart Disease
Enrollment 200 participants
Start Date 2024-01-09
Primary Completion 2026-04-01 (estimated)
Study Completion 2026-10-01 (estimated)
Updated on ClinicalTrials.gov 2024-02-13