Genome Sequencing for Congenital Heart Disease
Trial Summary
What is the purpose of this trial?
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.
Will I have to stop taking my current medications?
The trial information does not specify whether you need to stop taking your current medications.
What data supports the effectiveness of the treatment Whole Genome Sequencing for Congenital Heart Disease?
Rapid whole genome sequencing (rWGS) has been shown to increase the rate of diagnosis and reduce the cost of care in newborns with suspected genetic diseases, including those with congenital heart disease. This suggests that using rWGS can help identify genetic causes of heart defects more quickly, potentially leading to better management and outcomes for affected infants.12345
Is genome sequencing safe for humans?
Genome sequencing, including whole genome sequencing (WGS) and next-generation sequencing (NGS), has been used in various studies and is generally considered safe for humans. These technologies have been applied in different medical conditions, including congenital heart disease, without specific safety concerns reported in the research.12356
How is whole genome sequencing different from other treatments for congenital heart disease?
Whole genome sequencing (WGS) is unique because it analyzes the entire genetic makeup to identify potential genetic causes of congenital heart disease, which can lead to more accurate diagnoses and personalized treatment plans. Unlike traditional methods, WGS can uncover rare genetic variants that might not be detected otherwise, potentially reducing the cost of care and improving outcomes for patients.12378
Research Team
Eligibility Criteria
This trial is for pregnant individuals with a prenatal diagnosis of congenital heart disease in their fetus, who want genetic testing and are planning to undergo amniocentesis or chorionic villus sampling.Inclusion Criteria
Exclusion Criteria
Trial Timeline
Screening
Participants are screened for eligibility to participate in the trial
Whole Genome Sequencing
Whole genome sequencing (WGS) is performed on fetuses with prenatally detected congenital heart disease (CHD) to assess diagnostic yield and effect of prenatal versus postnatal phenotype on diagnostic yield.
Consultation and Planning
Participants receive consultation with subspecialist providers to plan delivery location and postnatal interventions based on WGS results.
Follow-up
Participants are monitored for psychological impact and clinical utility of WGS results, including measures of stress, anxiety, and depression.
Treatment Details
Interventions
- Whole Genome Sequencing (Genetic Testing)
Whole Genome Sequencing is already approved in Canada for the following indications:
- Genetic disorders
- Congenital heart disease
- Prenatal diagnosis
Find a Clinic Near You
Who Is Running the Clinical Trial?
Scripps Translational Science Institute
Lead Sponsor