Study of Genetic and Environmental Factors in Pregnant Women With Fetuses Having Complex Congenital Heart Defects Using multiOMICS

What this Trial Is About

Researchers are studying complex congenital heart defects CHD in fetuses to find epigenetic causes linked to environmental factors during pregnancy. These heart malformations have varied origins, with genetic causes identified in only a minority of cases, and environmental exposures possibly playing a role. The study aims to better understand how gene and environment interactions contribute to CHD using advanced multi-omics methods. The study involves genetic analyses on amniotic fluid collected during routine amniocentesis. These analyses include free RNA study, methylome profiling, and trio exome sequencing parents and fetus. The research compares fetuses with complex non-syndromic CHD to controls with non-malformative anomalies to identify biomarkers and molecular mechanisms. The study period covers prenatal samples taken between 20 and 28 weeks of gestation. Participants will undergo amniocentesis for sample collection, followed by multi-omics analyses including exome, RNA sequencing, and methylation studies. Researchers will examine biomarkers related to cardiac malformations at the initial visit. Consent and social security affiliation are required. The study is non-randomized and includes ongoing monitoring of genetic and epigenetic markers to improve understanding of CHD causes. The total participation duration aligns with the prenatal period of 20 to 28 weeks gestation and data collection at visit 1.

Antenatal Investigation of Fetuses With Complex Congenital Heart Defects Using multiOMICS