Pre-natal Patient
Conditions
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.
Interventions
OTHERBlood samples
Sponsors
Centre Hospitalier Universitaire Dijon
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| supernumerary chromosome markers | baseline |
Countries
France
Outcome results
None listed