ClinicalTrials.gov
ClinicalTrials.gov Menu

Trisomy of Chromosome 21 Diagnosis by High Output Sequencing (SEQ21)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01118507
Recruitment Status : Completed
First Posted : May 6, 2010
Last Update Posted : January 3, 2014
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Brief Summary:
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.

Condition or disease
Trisomy 21 - Translocation

  Show Detailed Description

Study Type : Observational
Actual Enrollment : 976 participants
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.
Study Start Date : March 2010
Actual Primary Completion Date : September 2013
Actual Study Completion Date : October 2013

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Group/Cohort
TRISOMY
mothers of a trisomic fetus 21
NORMAL KARYOTYPE
mothers of DISOMIQUE foetus 21



Primary Outcome Measures :
  1. The diagnostic performances of the quantification of the DNA resulting from the chromosome 21 by High output shotgun sequencing [ Time Frame: 24 MONTHS ]
    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).


Secondary Outcome Measures :
  1. The time necessary for the treatments of samples: [ Time Frame: 24 MONTHS ]
    this one will be estimated at the time means necessities to treat ten first ones and the last ten takings of the study

  2. The cost by taking. [ Time Frame: 24 MONTHS ]
    The cost in euro of the high output shotgun sequencing for one blood sample

  3. The repeatability of the quantification: [ Time Frame: 24 MONTHS ]
    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


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
PREGNANT WOMEN
Criteria

Inclusion Criteria:

  • Age ≥ 18 years,
  • patient coming from one of multidisciplinary prenatal diagnosis center
  • having à high risk of trisomy of chromosome 21 estimated by combine screening > 1/250
  • 11 weeks of gestation or high
  • accepting invasive prenatal diagnosis of chromosomal abnormalities
  • accepting genetic analysis of blood circulating DNA
  • Patient accepting to sign the enlightened assent

Exclusion Criteria:

  • Patient of less than 18 years
  • combine risk < 1/250
  • refusing invasive prenatal diagnosis of chromosomal abnormalities
  • refusing genetic analysis of blood circulating DNA
  • Patient refusing to sign the enlightened assent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01118507


Locations
France
Necker Enfants Malades
Paris, France, 75015
Chi Poissy St Germain
Poissy, France, 78300
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: LAURENT SALOMON, MCU PH APHP

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT01118507     History of Changes
Other Study ID Numbers: AOM 09071
2009-A00908-49 ( Registry Identifier: IDRCB )
First Posted: May 6, 2010    Key Record Dates
Last Update Posted: January 3, 2014
Last Verified: February 2011

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Trisomy of chromosome 21 diagnosis
first trimester of pregnancy
maternal blood
High output shotgun sequencing

Additional relevant MeSH terms:
Trisomy
Down Syndrome
Aneuploidy
Chromosome Aberrations
Pathologic Processes
Chromosome Duplication
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn