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
Age range
0 Years – 18 Years
Sex
ALL
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A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
Epigenetic signature associated with pathogenic variations in the CHD7 gene (CHARGE Syndrome)
Timeframe: 12 months
Epigenetic signature associated with pathogenic variations in the KMT2D gene (KABUKI syndrome)
Timeframe: 12 months