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

NCT06244940 | Recruiting

• 1 other identifier: IRB-23-8202
• Study Type: interventional
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Congenital Heart Disease

Outcome Measures

Primary Outcomes (1)

• Diagnostic yield of WGS in fetal congenital heart disease

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

  Anticipated 200 trios in 2 years

Secondary Outcomes (7)

• Diagnostic yield by type of CHD lesion

  Anticipated 200 trios in 2 years

• Patient utility of WGS as measured by: The Genome Empowerment Scale (GEmS)

  Final survey 18 months after birth

• Patient utility of WGS as measured by: The Feelings About genomiC Testing Results (FACToR) Questionnaire

  Final survey 18 months after birth

• Provider utility of WGS: Clinician-reported Genetic testing Utility InDEx (C-Guide)

  Final survey 18 months after birth

• Patient depression and anxiety measures over time: GAD7

  Final survey 18 months after birth

Study Arms (1)

Whole Genome Sequencing (WGC) from subject samples

OTHER

Diagnostic Test: Whole Genome Sequencing (WGC) from subject samples

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.

Whole Genome Sequencing (WGC) from subject samples

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Scripps Translational Science Institute: lead

Study Sites (1)

Rady Children's Institute for Genomic Medicine

San Diego, California, 92123, United States

RECRUITING

MeSH Terms

Conditions

Heart Defects, Congenital

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Rebecca Reimers, MD

CONTACT

858-784-1000; rreimers@scripps.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: October 28, 2023
• First Posted: February 6, 2024
• Study Start: January 9, 2024
• Primary Completion: April 1, 2026
• Study Completion (Estimated): October 1, 2026
• Last Updated: February 13, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)