Investigating complex congenital heart defects in fetuses using multi-omics techniques
Antenatal Investigation of Fetuses With Complex Congenital Heart Defects Using multiOMICS
NA · University Hospital, Bordeaux · NCT06705543
This study is trying to find out what causes complex heart defects in unborn babies by looking at their genetic and environmental factors using samples from amniotic fluid.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 40 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | University Hospital, Bordeaux (other) |
| Locations | 2 sites (Bordeaux and 1 other locations) |
| Trial ID | NCT06705543 on ClinicalTrials.gov |
What this trial studies
This study aims to explore the underlying causes of complex congenital heart defects (CHD) in fetuses by employing a multi-omics approach, which includes exome sequencing, RNA sequencing, and methylation analysis. The research focuses on identifying epigenetic factors that may contribute to these cardiac malformations, particularly in relation to environmental influences during pregnancy. By analyzing amniotic fluid samples, the study seeks to uncover the complex interplay between genetic and environmental factors that lead to CHD. The findings could enhance our understanding of the etiology of these defects and improve prenatal diagnostics.
Who should consider this trial
Good fit: Ideal candidates for this study are pregnant women aged 18 and older carrying a single fetus diagnosed with a complex non-syndromic congenital heart defect, without identified chromosomal abnormalities.
Not a fit: Patients with syndromic congenital heart defects or those whose fetuses have identified chromosomal abnormalities or infections may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better identification of risk factors for congenital heart defects, potentially improving prenatal care and outcomes for affected fetuses.
How similar studies have performed: While the multi-omics approach is gaining traction, this specific application to complex congenital heart defects is relatively novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: Fetuses with congenital heart disease : * Pregnant women aged 18 and more * Single foetal pregnancy in which the foetus has a complex non-syndromic congenital heart defect, with no identified chromosomal abnormality, gene syndrome or infection. * Patient for whom the indication for amniocentesis has been accepted by the CPDPN and accepted by the couple/patient * Gestational age between 20 and 28 weeks' gestation. * Person affiliated to or benefiting from a social security scheme. * Free, informed and express consent (confirmed in writing) (at the latest on the day of inclusion and before any examination required by the research). Control Population for RNAseq and MéthlySeq * Pregnant women aged 18 and more * Patient in whom the indication for amniocentesis has been retained by the CPDPN and accepted by the couple/patient, for a non-malformative ultrasound anomaly (hyperechoic bowel, idiopathic hydramnios, increased risk of trisomy 21, agenesis of the OPN, suspected toxoplasmosis/CMV seroconversion), with no chromosomal anomaly, gene syndrome or infection identified. * Gestational age between 20 and 28 weeks' gestation. * Person affiliated to or benefiting from a social security scheme. * Free, informed and express consent (confirmed in writing) (at the latest on the day of inclusion and before any examination required by the research). Exclusion Criteria: For both populations (cases and controls) : * Female minors, * Patients not affiliated to the social security system, * Patients who do not understand French, * Patients under guardianship * Multiple pregnancies, or where the foetus has associated malformations
Where this trial is running
Bordeaux and 1 other locations
- CHU de Bordeaux — Bordeaux, France (RECRUITING)
- CHU de Nantes — Nantes, France (NOT_YET_RECRUITING)
Study contacts
- Principal investigator: Caroline ROORYCK-THAMBO, PROF — University Hospital, Bordeaux
- Study coordinator: Caroline ROORYCK-THAMBO, PROF
- Email: caroline.rooryck-thambo@chu-bordeaux.fr
- Phone: +335 56 79 59 81
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Congenital Heart Disease, exome, RNAseq, methylome, biomarkers, environnemental factors, epigenetics