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

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: NCT02890472
Recruitment Status : Unknown
Verified August 2016 by Centre Hospitalier Universitaire de Nīmes.
Recruitment status was:  Enrolling by invitation
First Posted : September 7, 2016
Last Update Posted : September 7, 2016
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
Actual Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome
Study Start Date : October 2016
Estimated Primary Completion Date : January 2017
Estimated Study Completion Date : July 2017

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

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

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Responsible Party: Centre Hospitalier Universitaire de Nīmes Identifier: NCT02890472     History of Changes
Other Study ID Numbers: LOCAL/2015/EM-01
First Posted: September 7, 2016    Key Record Dates
Last Update Posted: September 7, 2016
Last Verified: August 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes

Additional relevant MeSH terms:
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22q11 Deletion Syndrome
DiGeorge Syndrome
Pathologic Processes
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