Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes

Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations Clinical Trial

— FOETEX  

Official title:

Contribution of High-throughput Exome Sequencing in Fetopathology

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02512354
• Other study ID #: THEVENON PHRC I 2014
• Status: Completed
• Start date: March 4, 2015
• Est. completion date: October 8, 2018

Study information

• Verified date: December 2019
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This research concerns the contribution of a new examination, high-throughput exome sequencing, in the diagnosis of the cause of polymalformative fetal syndromes. With currently available examinations, the causes of polyformative syndromes, which correspond to the association of several congenital malformations with varying degrees of severity in different organs, remain unknown in a large number of cases.

High-throughput exome sequencing (HTES) is a diagnostic tool that allows the simultaneous analysis of all of the coding parts of DNA. This examination has already shown its superior diagnostic capability in every post-natal diagnostic context, in particulier in infants with malformations associated or not with intellectual deficiency. Its contribution has not yet been studied in a large number of fetuses with polymalformations. To investigate the usefulness of HTES, we propose to carry out the examination in 100 fetuses with polymalformations, as well as the usual examinations including chromosomal microarray analysis and possibly the study of specific genes that may explain these malformations. A blood sample will be taken from both parents to allow interpretation of the results.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: October 8, 2018
• Est. primary completion date: October 8, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Fetus with at least 2 malformations, with no diagnosis (or several low-certainty diagnostic hypotheses, which require several molecular examinations) after fetopathological and radiological examinations

• Written consent from both parents

• Possibility to obtain samples from both parents

Exclusion Criteria:

• Refusal of parents to take part in the study

• Parents without National Health Insurance cover

• Parents under guardianship or in custody

• Impossibility to obtain samples from both parents

• Diagnostic hypothesis considered highly probable for which a molecular test cheaper that HTES is available

Related Conditions & MeSH terms

• Congenital Abnormalities
• Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations

Intervention

Other:
• Sample of a fragment of fetal tissue

• Parent's blood samples

Locations

Country	Name	City	State
France	CHU de Clermont-Ferrand	Clermont-Ferrand
France	CHU de DIJON	Dijon
France	CHU Montpellier	Montpellier
France	CH de Mulhouse (Hôpital Emile Muller)	Mulhouse
France	CHRU de Reims (Hôpital Maison Blanche)	Reims
France	CHU de Rennes	Rennes
France	CHU de Rouen	Rouen
France	CHU de STRASBOURG (Hôpital Hautepierre)	Strasbourg
France	CHRU de Tours	Tours
France	CHU de NANCY	Vandoeuvre-les-nancy

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of additional diagnoses made thanks to HTES compared with the usual examinations		baseline
Primary	Number of diagnoses not made by HTES compared with usual examinations		baseline