NCT01907425

Brief Summary

In the prenatal period, les supernumerary marker chromosomes (SMC) and de novo apparently balanced reciprocal translocations are revealed by foetal karyotyping, which does not always make it possible to determine whether the anomaly is balanced or not and does not reveal uniparental disomy. The presence of these chromosomal rearrangements raises a difficult question for genetic counselling during pregnancy because of the risk of intellectual deficiency in the foetus. CGH+SNP-Array can provide information concerning 1) the balanced or not nature of these translocations 2) the presence or not of euchromatin in the SMC 3) the presence or not of uniparental disomy.

Trial Health

35
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
35

participants targeted

Target at P25-P50 for not_applicable

Geographic Reach
1 country

1 active site

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 17, 2013

Completed
8 days until next milestone

First Posted

Study publicly available on registry

July 25, 2013

Completed
1 month until next milestone

Study Start

First participant enrolled

August 30, 2013

Completed
3.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 22, 2017

Completed
Last Updated

February 21, 2024

Status Verified

February 1, 2024

Enrollment Period

3.7 years

First QC Date

July 17, 2013

Last Update Submit

February 20, 2024

Conditions

Pre-natal Patient

Outcome Measures

Primary Outcomes (1)

  • supernumerary chromosome markers

    baseline

Study Arms (1)

Pre-natal Patient

OTHER
Other: Blood samples

Interventions

Blood samplesOTHER
Pre-natal Patient

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Metaphase karyotyping with SMC or a de novo Apparently-balanced reciprocal translocation
  • Parents covered by the National Health Insurance Agency,
  • Consent of the parents

You may not qualify if:

  • Persons not covered by the National Health Insurance Agency
  • Normal foetal karyotyping or showing chromosomal anomalies not related to the present study (trisomy 18….) or inherited anomalies
  • Absence of a sample from one of the parents

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU de Dijon

Dijon, 21079, France

Location

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 17, 2013

First Posted

July 25, 2013

Study Start

August 30, 2013

Primary Completion

May 22, 2017

Last Updated

February 21, 2024

Record last verified: 2024-02

Locations

FR(1)