Prenatal Microarray Follow-Up Study
- Conditions
- Genetic Diseases
- Registration Number
- NCT02160938
- Lead Sponsor
- Columbia University
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 184
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Full Scale Intelligence Quotient (IQ) score 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 Outcome Measures
Name Time Method 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 Verbal Comprehension composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Visual Spatial composite score age: up to 3 years Visual Spatial composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Age-adjusted Z scores for birth weight birth Daily Living Skills domain score age: up to 3 years Daily Living Skills domain score from the Vineland Adaptive Behavior Scale
Age-adjusted Z scores for birth length birth Working Memory composite score age: up to 3 years Working Memory composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Communication domain score age: up to 3 years Communication domain score from the Vineland Adaptive Behavior Scale
Socialization domain score age: up to 3 years Socialization domain score from the Vineland Adaptive Behavior Scale
Motor Skills domain score age: up to 3 years Motor Skills domain score from the Vineland Adaptive Behavior Scale
Adaptive Behavior Composite score age: up to 3 years Adaptive Behavior Composite score from the Vineland Adaptive Behavior Scale
Age-adjusted Z scores for head circumference birth
Trial Locations
- Locations (9)
Center for Fetal Medicine
🇺🇸Los Angeles, California, United States
George Washington University Biostatistics Center
🇺🇸Rockville, Maryland, United States
Montefiore Medical Center
🇺🇸Larchmont, New York, United States
North Shore LIJ
🇺🇸Manhasset, New York, United States
Mt. Sinai Medical Center
🇺🇸New York, New York, United States
Columbia University
🇺🇸New York, New York, United States
OB/GYN Services PC
🇺🇸New York, New York, United States
Geisinger Health System
🇺🇸Danville, Pennsylvania, United States
University of Pennsylvania
🇺🇸Philadelphia, Pennsylvania, United States
Center for Fetal Medicine🇺🇸Los Angeles, California, United States