Trisomy of Chromosome 21 Diagnosis by High Output Sequencing (SEQ21)
Demonstrate that the High output shotgun sequencing of the foetal DNA in the maternal blood could allow a complete discrimination between the mothers of a trisomic fetus 21 or a DISOMIQUE foetus 21 from the first quarter of the pregnancy, and so to obtain a reliable alternative in invasive procedure.
Trisomy 21 - Translocation
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||Trisomy of Chromosome 21 Diagnosis by High Output Sequencing of Foetal Circulating DNA in Mother Blood at First Trimester of Pregnancy.|
- The diagnostic performances of the quantification of the DNA resulting from the chromosome 21 by High output shotgun sequencing [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]The diagnostic performances(sensibility and specificity)of the quantification of the DNA resulting from the chromosome 21 by High-througput shotgun sequencing will be estimated in comparison with the results of the traditional cytogenetics obtained by culture of amniocytes or trophoblaste (gold standards).
- The time necessary for the treatments of samples: [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]this one will be estimated at the time means necessities to treat ten first ones and the last ten takings of the study
- The cost by taking. [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]The cost in euro of the high output shotgun sequencing for one blood sample
- The repeatability of the quantification: [ Time Frame: 24 MONTHS ] [ Designated as safety issue: No ]this will be made by the realization of a double quantification, blind at ten drawn lots patients (these patients will be taken by two tubes instead of the only one and the laboratory will treat both tubes blind, as if they corresponded to two different patients.).
Biospecimen Retention: Samples With DNA
fetal DNA in maternal blood
|Study Start Date:||March 2010|
|Study Completion Date:||October 2013|
|Primary Completion Date:||September 2013 (Final data collection date for primary outcome measure)|
mothers of a trisomic fetus 21
mothers of DISOMIQUE foetus 21
Show Detailed Description
|Necker Enfants Malades|
|Paris, France, 75015|
|Chi Poissy St Germain|
|Poissy, France, 78300|
|Principal Investigator:||LAURENT SALOMON, MCU PH||APHP|