NCT02512354

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

Contribution of High-throughput Exome Sequencing in Fetopathology

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 100 (actual)
• Sponsor: Centre Hospitalier Universitaire Dijon · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

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

Interventions

Type	Name	Description
OTHER	Sample of a fragment of fetal tissue
OTHER	Parent's blood samples

Timeline

• Start date: 2015-03-04
• Primary completion: 2018-10-08
• Completion: 2018-10-08
• First posted: 2015-07-30
• Last updated: 2026-02-09

Locations

10 sites across 1 country: France