Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological ExaminationsFOETEXNCT02512354
Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes
An observational study of Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations, run by Centre Hospitalier Universitaire Dijon at 10 sites in France.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations
- What is being tested?
- Sample of a fragment of fetal tissue and Parent's blood samples
- How many people
- 100 participants
- Where
- 10 sitesFrance
- Study dates
- 4 Mar 2015to 8 Oct 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
France10 sites
CHU de Clermont-Ferrand
Clermont-Ferrand, 63000
CHU de DIJON
Dijon, 21079
CHU Montpellier
Montpellier, 34000
CH de Mulhouse (Hôpital Emile Muller)
Mulhouse, 68070
CHRU de Reims (Hôpital Maison Blanche)
Reims, 51092
CHU de Rennes
Rennes, 35203
CHU de Rouen
Rouen, 76000
CHU de STRASBOURG (Hôpital Hautepierre)
Strasbourg, 67098
CHRU de Tours
Tours, 37000
CHU de NANCY
Vandœuvre-lès-Nancy, 54511
About this study
Official title: Contribution of High-throughput Exome Sequencing in Fetopathology
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.
- Being tested
- Sample of a fragment of fetal tissue, Parent's blood samples
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sample of a fragment of fetal tissueOther
Parent's blood samplesOther
| Study group | Role | What they receive |
|---|---|---|
| Fetus | Not described Receives: Other: Sample of a fragment of fetal tissue; Other: Parent's blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of additional diagnoses made thanks to HTES compared with the usual examinations
Measured: baseline
Number of diagnoses not made by HTES compared with usual examinations
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jul 2015 (estimated)
- Study start4 Mar 2015
- Primary completion8 Oct 2018
- Study completion8 Oct 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological ExaminationsStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02512354
- Sponsor's protocol ID
- THEVENON PHRC I 2014
- Acronym
- FOETEX
- Status last verified
- Feb 2026
- First submitted
- 29 Jul 2015
- Last updated
- 9 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marcais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quelin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30.
PubMed 32732226
Study at a glance
From the registry record, last updated by the sponsor on 9 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Contribution of High-throughput Exome Sequencing in Fetopathology
- ClinicalTrials.gov ID
- NCT02512354
- Acronym / sponsor ID
- FOETEX / THEVENON PHRC I 2014
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- 4 Mar 2015 (actual)
- Primary completion
- 8 Oct 2018 (actual)
- Study completion
- 8 Oct 2018 (actual)
- First posted
- 30 Jul 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fetus | – | Other: Sample of a fragment of fetal tissue, Other: Parent's blood samples |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Sample of a fragment of fetal tissue | Other | Fetus |
| Parent's blood samples | Other | Fetus |
Primary outcome
Number of additional diagnoses made thanks to HTES compared with the usual examinations
Time frame: baseline
Number of diagnoses not made by HTES compared with usual examinations
Time frame: baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Feb 2026.
- Results publication: PubMed 32732226Lefebvre M, Bruel AL, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, Attie-Bitach T, Kuentz P, Assoum M, Schaefer E, El Chehadeh S, Antal MC, Kremer V, Girard-Lemaitre F, Mandel JL, Lehalle D, Nambot S, Jean-Marcais N, Houcinat N, Moutton S, Marle N, Lambert L, Jonveaux P, Foliguet B, Mazutti JP, Gaillard D, Alanio E, Poirisier C, Lebre AS, Aubert-Lenoir M, Arbez-Gindre F, Odent S, Quelin C, Loget P, Fradin M, Willems M, Bigi N, Perez MJ, Blesson S, Francannet C, Beaufrere AM, Patrier-Sallebert S, Guerrot AM, Goldenberg A, Brehin AC, Lespinasse J, Touraine R, Capri Y, Saint-Frison MH, Laurent N, Philippe C, Tran Mau-Them F, Thevenon J, Faivre L, Thauvin-Robinet C, Vitobello A. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet. 2021 Jun;58(6):400-413. doi: 10.1136/jmedgenet-2020-106867. Epub 2020 Jul 30.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations, run by Centre Hospitalier Universitaire Dijon at 10 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of additional diagnoses made thanks to HTES compared with the usual examinations (time frame: baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02512354, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Feb 2026.