Characterizing fetal DNA methylation patterns in prenatal genetic and congenital conditions

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 observational project will map genome-wide DNA methylation patterns (episignatures) from fetal DNA obtained from amniotic fluid and frozen postmortem tissues and compare them with postnatal blood-derived patterns. Participants include fetuses or children with pathogenic or likely pathogenic variants in genes such as CHD7, KMT2D, HYLS1, TCTN3, or FLVCR2, together with negative controls. Genome-wide methylation analysis will be used to define reference fetal episignatures and to test whether fetal signatures differ from those defined after birth. The study aims to create fetal-specific methylation references that could improve interpretation of prenatal genetic findings.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Patient Inclusion Criteria:

  * 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
* Negative Controls :

  * 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 are 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
  * does not have 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
* For everyone:

  • For living participants: Non-objection by holders of parental authority to the reuse of clinical data and biological samples collected and stored in the context of care (consent of care).

  • For deceased participants:
* Consent of the holders of parental authority to the use of the samples kept for research purposes, signed as part of the treatment
* No mention of opposition to the reuse of clinical data from the treatment in the patient's medical record

Exclusion Criteria:

* Refusal of postmortem examination in case of fetal loss
* Parents' refusal of molecular investigations

Where it's running

• Department of Genomic Medicine for Rare Diseases and the Multidisciplinary Center for Prenatal Diagnosis of the Necker-Enfants malades Hospital
  Paris, France Recruiting

Study contacts

• Study coordinator: Nicolas BOURGON, MD, PhD
• Email: nicolas.bourgon@aphp.fr
• Phone: +33 1 42 19 27 96

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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.