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

Pre-natal Patient Clinical Trial

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Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01907425
• Other study ID #: Callier PHRC N 2012
• Status: Terminated
• Phase: N/A
• Start date: August 30, 2013

Study information

• Verified date: February 2024
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 35
• Est. primary completion date: May 22, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Pre-natal Patient

Intervention

Other:
• Blood samples

Locations

Country	Name	City	State
France	CHU de Dijon	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	supernumerary chromosome markers		baseline