Investigating complex congenital heart defects in fetuses using multi-omics techniques

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.