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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02512354

Acronym

FOETEX

Enrollment

100

Registered

2015-07-30

Start date

2015-03-04

Completion date

2018-10-08

Last updated

2026-02-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

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.

Interventions

OTHERSample of a fragment of fetal tissue

OTHERParent's blood samples

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Number of additional diagnoses made thanks to HTES compared with the usual examinations	baseline
Number of diagnoses not made by HTES compared with usual examinations	baseline

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 10, 2026