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Prevalence and Clinical Spectrum of the 22q11 Deletion

This study has been terminated.
(sufficient data collected)
Information provided by:
Children's Healthcare of Atlanta Identifier:
First received: December 19, 2005
Last updated: May 2, 2007
Last verified: May 2007
The purpose of this project is to conduct population based surveillance for prenatally diagnosed congenital defects amount residents of the five counties to: improve the comprehensiveness of the Metropolitan Atlanta Congenital Defects Program (MACDP) to (1) better fulfill its objectives (2) allow assessment of the impact of prenatal diagnosis and elective termination on the birth prevalence of congenital defects in Atlanta (3) develop a registry of prenatally diagnosed defects to be used in epidemiologic and genetic studies, in evaluation prevention programs and in monitoring prenatal diagnostic technology.

Congenital Disorders

Study Type: Observational
Study Design: Observational Model: Defined Population
Observational Model: Natural History
Time Perspective: Longitudinal
Time Perspective: Retrospective
Official Title: Prevalence and Clincial Spectrum of the 22q11 Deletion: A Population Based Study of Children and Congenital Heart Defects

Further study details as provided by Children's Healthcare of Atlanta:

Study Start Date: January 1967
Estimated Study Completion Date: December 2006
Detailed Description:

Since 1967, The Centers for Disease Control and Prevention (CDC) has conducted surveillance of birth defects in metropolitan Atlanta through review of hospital delivery and newborn medical records and records from various other medical sources in the five central counties of the metropolitan area (Clayton, Cobb, DeKalk, Fulton and Gwinnett, and has been expanded to include prenatal records. The project was begun n the aftermath of thalidomide and rubella epidemics as a kind of early-warning system for new or resurgent teratogens. The voluntary participation of Atlanta hospitals was sought and obtained at the inception of the system (the original system was a joint effort of the CDC, the Georgia Institute of Mental Health and Emory University).

A case must be diagnosed by the child's sixth birthday or within six years of the date of elective termination.

Children's Healthcare is one retrospective source of medical records reviewed for discharge summaries and disease indices.


Ages Eligible for Study:   up to 6 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • birth defect diagnosed by the child's sixth birthday
  • birth defect diagnosed within 6 years of the elective date of termination

Exclusion Criteria:

  • those who do not meet inclusion criteria
  Contacts and Locations
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Please refer to this study by its identifier: NCT00267397

United States, Georgia
Children's Healthcare of Atlanta
Atlanta, Georgia, United States, 30322
Sponsors and Collaborators
Children's Healthcare of Atlanta
Principal Investigator: Robert M. Campbell, MD Children's Healthcare of Atlanta
  More Information Identifier: NCT00267397     History of Changes
Other Study ID Numbers: 01-107
Study First Received: December 19, 2005
Last Updated: May 2, 2007

Keywords provided by Children's Healthcare of Atlanta:
birth defects
22Q11 deletion processed this record on April 26, 2017