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Clinical Trials/NCT02512354
NCT02512354CompletedNot Applicable

Contribution of High-throughput Exome Sequencing in Fetopathology

Centre Hospitalier Universitaire Dijon10 sites in 1 country100 target enrollmentStarted: March 4, 2015Last updated:
Conditions
Interventions

Trial Snapshot

Phase
Not Applicable
Status
Completed
Enrollment
100
Locations
10
Primary Endpoint
Number of diagnoses not made by HTES compared with usual examinations

Study Overview

Brief 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.

Study Design

Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Eligibility Criteria

Sex
All
Accepts Healthy Volunteers
No

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

Arms & Interventions

Fetus

Intervention: Sample of a fragment of fetal tissue (Other)

Fetus

Intervention: Parent's blood samples (Other)

Outcomes

Primary Outcomes

Number of diagnoses not made by HTES compared with usual examinations

Time Frame: baseline

Number of additional diagnoses made thanks to HTES compared with the usual examinations

Time Frame: baseline

Secondary Outcomes

No secondary outcomes reported

Investigators

Sponsor Class
Other
Responsible Party
Sponsor

Study Sites (10)

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