Prevalence and Clinical Spectrum of the 22q11 Deletion

Prevalence and Clincial Spectrum of the 22q11 Deletion: A Population Based Study of Children and Congenital Heart Defects

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.

Study Overview

• Status: Terminated
• Conditions: Congenital Disorders

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.

• Study Type: Observational

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Children's Healthcare of Atlanta

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 6 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Defined Population
• Time Perspectives: Retrospective

Collaborators and Investigators

• Sponsor: Children's Healthcare of Atlanta
• Investigators: Principal Investigator: Robert M. Campbell, MD, Children's Healthcare of Atlanta

Study record dates

Study Major Dates

• Study Start: January 1, 1967
• Study Completion: December 1, 2006

Study Registration Dates

• First Submitted: December 19, 2005
• First Submitted That Met QC Criteria: December 19, 2005
• First Posted (Estimate): December 21, 2005

Study Record Updates

• Last Update Posted (Estimate): May 4, 2007
• Last Update Submitted That Met QC Criteria: May 2, 2007
• Last Verified: May 1, 2007

More Information

Terms related to this study

• Keywords: prenatal; infant; birth defects; 22Q11 deletion
• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Lymphatic Diseases; Endocrine System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Parathyroid Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Chromosome Disorders; 22q11 Deletion Syndrome; Lymphatic Abnormalities; Hypoparathyroidism; DiGeorge Syndrome
• Other Study ID Numbers: 01-107