Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Genetic Diseases
- Sponsor
- Columbia University
- Enrollment
- 184
- Locations
- 9
- Primary Endpoint
- Full Scale Intelligence Quotient (IQ) score
- Status
- Completed
- Last Updated
- 7 years ago
Overview
Brief Summary
The objectives of this multi-center collaborative study are to ascertain the frequency of specific copy number variants (CNVs) identified prenatally and to evaluate in detail through continued follow-up of the children the phenotypes associated with CNVs of known or uncertain clinical significance.
Detailed Description
Specifically the aims are as follows: 1. Determine the intellectual function of the children at age 3 years 2. Determine phenotypic characteristics other than intellectual function of the children at age 3 years 3. Determine the frequency of specific copy number variants discovered during routine prenatal diagnostic testing 4. Evaluate the educational, counseling and psychosocial implications of microarray testing as it is introduced as a standard prenatal diagnostic procedure.
Investigators
Ronald J Wapner, MD
Professor and Vice Chairman for Research, Department of Obstetrics and Gynecology
Columbia University
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Full Scale Intelligence Quotient (IQ) score
Time Frame: age 3 years
Full Scale IQ score from the Wechsler Preschool and Primary Scale of Intelligence IV or Wechsler Intelligence Scale for Children 5th edition
Secondary Outcomes
- Percent of subjects with cerebral palsy(age: up to 3 years)
- Percent of subjects with specific commonly occurring CNVs(detected prenatally)
- Percent of subjects with seizure disorders(age: up to 3 years)
- Percent of subjects with dysmorphic features diagnosed by dysmorphologist(age 3 years)
- Percent of subjects with structural anomalies(age: up to 3 years)
- Verbal Comprehension composite score(age: up to 3 years)
- Visual Spatial composite score(age: up to 3 years)
- Age-adjusted Z scores for birth weight(birth)
- Daily Living Skills domain score(age: up to 3 years)
- Age-adjusted Z scores for birth length(birth)
- Working Memory composite score(age: up to 3 years)
- Communication domain score(age: up to 3 years)
- Socialization domain score(age: up to 3 years)
- Motor Skills domain score(age: up to 3 years)
- Adaptive Behavior Composite score(age: up to 3 years)
- Age-adjusted Z scores for head circumference(birth)