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

Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02890472

Enrollment

Registered

2016-09-07

Start date

2017-10-01

Completion date

2020-12-31

Last updated

2021-01-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

22q11 Deletion Syndrome Di George Syndrome

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
Thymic thoracic ratio measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator.	day 0

Countries

France

Outcome results