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Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study

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ClinicalTrials.gov Identifier: NCT02890472
Recruitment Status : Recruiting
First Posted : September 7, 2016
Last Update Posted : January 27, 2020
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nīmes

Brief Summary:
22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease

Condition or disease
22q11 Deletion Syndrome Di George Syndrome

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Study Type : Observational
Estimated Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome
Actual Study Start Date : October 1, 2017
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020


Group/Cohort
prenatal diagnosis of a fetal 22q11 deletion syndrome



Primary Outcome Measures :
  1. Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator. [ Time Frame: day 0 ]


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
prenatal diagnosis of a fetal 22q11 deletion syndrome
Criteria

Inclusion Criteria:

  • all prenatal diagnosis with FISH or CGH array of a fetal 22q11 deletion syndrome during the inclusion period.
  • The pregnancy follow-up should be done one of the 44 french fetal medicine unit.
  • Sonographic picture of 3 vessels slides should be communicated for independent review.

Exclusion Criteria:

  • no sonographic picture available

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): NCT02890472


Locations
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France
CHUNimes Recruiting
Nîmes, France
Contact: Eve MOUSTY    0466686868    eve.mousty@chu-nimes.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nīmes
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Responsible Party: Centre Hospitalier Universitaire de Nīmes
ClinicalTrials.gov Identifier: NCT02890472    
Other Study ID Numbers: LOCAL/2015/EM-01
First Posted: September 7, 2016    Key Record Dates
Last Update Posted: January 27, 2020
Last Verified: January 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Additional relevant MeSH terms:
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22q11 Deletion Syndrome
DiGeorge Syndrome
Syndrome
Disease
Pathologic Processes
Congenital Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Chromosome Disorders
Genetic Diseases, Inborn
Hypoparathyroidism
Parathyroid Diseases
Endocrine System Diseases