Working... Menu

Non-Invasive Chromosomal Evaluation of 22q11.2 (22Q)

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. Identifier: NCT02541058
Recruitment Status : Unknown
Verified July 2016 by Roche Sequencing Solutions.
Recruitment status was:  Recruiting
First Posted : September 4, 2015
Last Update Posted : July 18, 2016
Information provided by (Responsible Party):
Roche Sequencing Solutions

Brief Summary:
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication. Investigators will be evaluating subjects with abnormal U/S.

Condition or disease
DiGeorge Syndrome, Velocardiofacial Syndrome, 22q.11.2 Deletion Syndrome

Layout table for study information
Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Non-Invasive Chromosomal Evaluation of 22q11.2 Using Cell-free Fetal DNA From Maternal Plasma
Study Start Date : June 2015
Estimated Primary Completion Date : December 2017
Estimated Study Completion Date : December 2017

Patients without confirmed 22q.11.2 deletion/duplication
Patients with confirmed 22q.11.2 deletion/duplication

Primary Outcome Measures :
  1. Performance of Ariosa 22q.11.2 deletion/duplication assay in prenatal patients [ Time Frame: 18 months ]

Biospecimen Retention:   Samples With DNA
Retained samples included extracted DNA and plasma

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.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Pregnant women carrying a fetus at risk or a confirmed fetus with 22q11.2 deletion/duplication. A person confirmed to have 22q11.2 deletion/duplication or a biologically related parent of a child that has chromosomal deletion/duplication in the region of 22q11.2.

Inclusion Criteria:

  1. Patient is ≥18 years of age and able to provide consent or, if under the age of 18, the patient has parental consent and child assent provided as required by the governing ethics committee.
  2. If pregnant, patients must have a singleton pregnancy and be at least 10 weeks gestation at the time of the study blood draw.
  3. Patients must meet at least one of the following conditions at the time of enrollment:

    1. are pregnant with abnormal fetal cardiac findings on ultrasound and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
    2. are pregnant with fetal ultrasound findings consistent with a 22q11.2 deletion/duplication phenotype and is undergoing evaluation with prenatal genetic testing or planned post-natal genetic testing in the immediate newborn period;
    3. are pregnant with a fetus known to have a 22q11.2 deletion/duplication confirmed by genetic testing with documentation is available;
    4. are biologically related parent of an enrolled child has chromosomal deletion/duplication in the region of 22q11.2;
  4. If the site is selected to enroll control patients, they must be pregnant women undergoing prenatal genetic evaluation for 22q11.2 deletion/duplication.

Exclusion Criteria

Patients meeting any of the following criteria will be excluded from the study:

1. Patient has history of malignancy treated with chemotherapy and/or major surgery, or bone marrow transplant.

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 identifier (NCT number): NCT02541058

Layout table for location contacts
Contact: Romielle Aquino 408-209-9098
Contact: Desiree Hollemon, MSN, MPH 503-686-8972

Layout table for location information
The Fetal Medicine Foundation Belgium Recruiting
Brussles, Belgium, 1020
Contact: Jacques Jani, MD    0032 2 477 3631   
Contact: Elisa Bevilacqua, MD    0032 2 477 3631   
Principal Investigator: Jacques Jani, MD         
Sponsors and Collaborators
Roche Sequencing Solutions
Layout table for investigator information
Study Director: Thomas Musci, MD Roche Sequencing Solutions

Layout table for additonal information
Responsible Party: Roche Sequencing Solutions Identifier: NCT02541058     History of Changes
Other Study ID Numbers: AD202
First Posted: September 4, 2015    Key Record Dates
Last Update Posted: July 18, 2016
Last Verified: July 2016

Keywords provided by Roche Sequencing Solutions:
Velocardiofacial Syndrome
Shprintzen Syndrome
Conotruncal Defects
Chromosomal Abnormalities
22q, 22q.11.2

Additional relevant MeSH terms:
Layout table for MeSH terms
DiGeorge Syndrome
Marfan Syndrome
Pathologic Processes
22q11 Deletion Syndrome
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Parathyroid Diseases
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Connective Tissue Diseases
Limb Deformities, Congenital