Prenatal Molecular Characterisation by CGH+SNP-ARRAY of Supernumerary Marker Chromosomes and de Novo Apparently Balanced Reciprocal Translocations
Not Applicable
Terminated
- Conditions
- Pre-natal Patient
- Interventions
- Other: Blood samples
- Registration Number
- NCT01907425
- Lead Sponsor
- Centre Hospitalier Universitaire Dijon
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- TERMINATED
- Sex
- All
- Target Recruitment
- 35
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
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Pre-natal Patient Blood samples -
- Primary Outcome Measures
Name Time Method supernumerary chromosome markers baseline
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
CHU de Dijon
🇫🇷Dijon, France