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

Part of paid clinical trials in San Diego, California.

Sponsor
Scripps Translational Science Institute
Study ID
NCT06244940
Status
Recruiting
Apply to this trial

Conditions

  • Congenital Heart Disease

Eligibility Criteria

Sex
FEMALE
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • Whole Genome Sequencing (WGC) from subject samples — DIAGNOSTIC_TEST
    Perform whole genome sequencing (WGS) on fetuses with prenatally detected congenital heart disease (CHD) who meet inclusion criteria. Assess diagnostic yield of WGS in CHD and effect of prenatal versus postnatal phenotype on diagnostic yield.

Study Details

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.

Key Dates

Start date
Jan 9, 2024
Status verified
Feb 2024
Primary completion
Apr 1, 2026
Completion
Oct 1, 2026

Study Design

Enrollment
200 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC

Arms

  • Other: Whole Genome Sequencing (WGC) from subject samples

Primary Outcome Measure

Diagnostic yield of WGS in fetal congenital heart disease [ Time Frame: Anticipated 200 trios in 2 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Rady Children's Institute for Genomic MedicineSan DiegoCalifornia92123
Rebecca Reimers, MD/MPH
858-494-5290

Find similar trials in San Diego, CA

By research site
Rady Children's Institute for Genomic Medicine· San Diego, CA

Related Studies