It is necessary to define reference DNA Methylation Episignatures from fetal DNA. The hypotheses are:
* It is possible to define reference DNA Methylation Episignatures from fetal DNA extracted from amniotic fluid or frozen tissues collected during the postmortem examination * Fetal DNA Methylation Episignatures may be different to postanal DNA Methylation Episignatures defined on DNA extracted from blood
Fetuses with a postmortem examination as part of the etiological diagnosis of developmental abnormality within the Genomic Medicine of Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from lung and amniotic fluid is available
OR a child cared for in the Genomic Medicine for Rare Diseases department of the Necker Children's Hospital, and whose DNA extracted from whole blood is available
with pathogenic or probably pathogenic variation in a gene following CHD7, KMT2D, HYLS1, TCTN3 or FLVCR2
whose parents have consented to molecular genetic testing as part of diagnosis and research
Refusal of postmortem examination in case of fetal loss
Parents' refusal of molecular investigations
The study population is derived from the Department of Genomic Medicine for Rare Diseases and the Multidisciplinary Center for Prenatal Diagnosis of the Necker-Enfants malades Hospital - APHP - GHU Paris Cité. The parents signed a consent to the storage and use of biological samples, stating that these samples taken as part of the treatment could be reused for medical research.
Other
Cross-sectional
Methylation analysis
GeneticGenomic DNA will be treated with bisulfite. 500 ng of processed DNA is then hybrized on an EPICv2 array Infinium methylation (Illumina, San Diego, CA, USA). This microarray enables the analysis of approximately 865 000 methylation sites at promoters, enhancers, CpG islands, intergenic and intragenic regions. It is the most widely used chip in the literature, including almost all of the EPIGENETIC SIGNATURES reported in human pathology.
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Treatment groupsSee each treatment group below.
Epigenetic signature associated with pathogenic variations in the CHD7 gene (CHARGE Syndrome)
Evidence of epigenetic signature from fetal tissue DNA in fetuses with pathogenic or probably pathogenic variation
Epigenetic signature associated with pathogenic variations in the KMT2D gene (KABUKI syndrome)
Evidence of epigenetic signature from fetal tissue DNA in fetuses with pathogenic or probably pathogenic variation
Differential methylation between fetal and postnatal epigenetic signature
Evidence of differential methylation between fetal an postnatal epigenetic signature
Differential methylation between tissue and amniotic fluid epigenetic signatures
Evidence of differential methylation between tissue and amniotic fluid epigenetic signatures
Statistical prediction parameter for each epigenetic signature
Measurement of the statistical prediction parameter for each epigenetic signature
Identification of a new epigenetic signature in foetal pathologies
Identification of news epigenetic signatures of exclusively pathologies associated with the HYLS1, TCTN3 and FLVCR2 genes
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Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator
