Prenatal Molecular Characterisation by CGH+SNP-ARRAY of Supernumerary Marker Chromosomes and de Novo Apparently Balanced Reciprocal Translocations

NCT ID: NCT01907425

Last Updated: 2024-02-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Clinical Phase

NA

Total Enrollment

35 participants

Study Classification

INTERVENTIONAL

Study Start Date

2013-08-30

Brief Summary

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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.

Detailed Description

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Conditions

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Pre-natal Patient

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Pre-natal Patient

Group Type OTHER

Blood samples

Intervention Type OTHER

Interventions

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Blood samples

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* 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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Centre Hospitalier Universitaire Dijon

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHU de Dijon

Dijon, , France

Site Status

Countries

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France

Other Identifiers

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Callier PHRC N 2012

Identifier Type: -

Identifier Source: org_study_id

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