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SD-CHD Study: Genetic Testing for Congenital Heart Disease

This study, called SD-CHD, is looking for genetic causes of congenital heart disease (CHD) in unborn babies. CHD means there are structural differences in the baby's heart. If you are pregnant and your baby has been diagnosed with CHD, you might be able to join. Researchers will use Whole Genome Sequencing (WGS) on samples from your baby to look for genetic reasons for the CHD. This study aims to see how often WGS can find a diagnosis for CHD in unborn babies. Knowing the genetic cause can help doctors and families plan the best care for the baby. This study is currently enrolling participants at Rady Children's Hospital.

Study design
This interventional study plans to enroll 200 pregnant individuals. It will use Whole Genome Sequencing (WGS) as a diagnostic test.
What's involved
You would need to have an amniocentesis or chorionic villus sampling to provide samples for Whole Genome Sequencing (WGS).
Compensation
Not stated in the trial record.
Follow-up
The primary outcome, diagnostic yield, will be measured over an anticipated 2 years for 200 trios.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06244940

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

Recruiting
NAAges 18+InterventionalDiagnostic
Scripps Translational Science Institute
~200 participants
Updated 2024-02-13 on ClinicalTrials.gov
What's tested:Whole Genome Sequencing (WGC) from subject samples

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Diagnostic yield of WGS in fetal congenital heart disease
Measured over Anticipated 200 trios in 2 years

Conditions

Congenital Heart Disease

Explore related trials

Congenital Heart Disease

NCT06244940

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Rady Children's Institute for Genomic Medicine

    San Diego, Californiastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Who to contact

Rebecca Reimers, MD
[email protected]
858-784-1000
Email the study team

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Eligibility criteria

Inclusion

Pregnant individual with ongoing pregnancy with prenatally detected fetal CHD
Desire for genetic diagnosis and clinical plan for amniocentesis or chorionic villus sampling

Exclusion

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

What this trial measures

  • Diagnostic yield of WGS in fetal congenital heart diseaseAnticipated 200 trios in 2 years

    Trios with pathogenic or likely pathogenic sequencing results/ total number of trios.