multi-omics genetic analyses included exomemulti-omics genetic analyses
multi-omics genetic analyses included exome: Genetic analysis will be carried out on amniotic fluid from the volume collected as part of the by obstetricians working in the fetal medicine unit. These genetic analyses will include :
* Study of free RNA circulating in the LA,
* Methylome study.
* Trio exome study (parents-fetus).
multi-omics genetic analyses: Genetic analysis will be carried out on amniotic fluid from the volume collected as part of the by obstetricians working in the fetal medicine unit; These genetic analyses will include :
* Study of free RNA circulating in the LA,
* Methylome study.
Study summary
This study will use multiOMICS study on fetuses with complexe congenital heart defects (CHD) to identify etiological epigenetic factors of these cardiac malformations, related to environmental factors during pregnancy.
Eligibility
Sex
FEMALE
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
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
Primary outcome measure(s)
Cardiac malformations biomarkers — Visit 1 : day 0 Identification of biomarkers such as RNA deregulation (mRNA, LncRNA, miRNA, upregulated or deregulated compared to controls), and DNA methylation marks (present or absent, compared to controls) specific to cardiac malformations by transcriptomic and methylomic analysis of amniotic fluid from fetuses with congenital heart disease
Trial sites (2)
Facility
City
Region
Status
CHU de Bordeaux
Bordeaux
France
Recruiting
CHU de Nantes
Nantes
France
Not Yet Recruiting
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This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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