An observational study in Genetic Diseases, sponsored by Columbia University. Completed at 9 sites in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2019-03-25.
Sponsored by Columbia University · Observational
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.
Specifically the aims are as follows:
403 studies on the registry are indexed under Genetic Diseases, Inborn; 145 are open to participants now.
This study's enrollment of 184 is close to the median of 192 across 195 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →Columbia University is the lead sponsor of 1,103 studies on the registry; 193 are open to participants now.
Of its 172 completed or terminated interventional studies of FDA-regulated products, 142 (83%) have results posted.
Counted across the registry records on this site, refreshed daily.
Women undergoing prenatal microarray testing during pregnancy.
Eligibility Criteria for Enrollment into the 3 year Follow-up Cohort
Inclusion Criteria
Singleton or multi-fetal pregnancy with a prenatal invasive procedure resulting in a diagnosis by microarray analysis of a microdeletion/duplication less than 10 Mbs, either pathogenic or of uncertain significance, which is reported to the patient. This includes:
Children whose mothers were enrolled in the initial study (through July 2011) and who met inclusion criteria for follow-up in that phase, referred to as the "Index cohort". This includes:
Exclusion Criteria
When the infants reach 24 months of age, the Study Follow-up Specialist will send all participants an age- appropriate Ages and Stages Questionnaire (ASQ) for completion. At as close to the age of 3 as possible, the following exams will be performed and are described below: * The Vineland-II Adaptive Behavior Scale (VABS) * Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV), or Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V, for siblings older than 7 years 7 months, when necessary) * Children will also be photographed (for review by the study dysmorphologist)
Other: 3-year follow-up
Women with children who will not reach the age of 2 years 6 months by the end of our study but have a prenatally diagnosed CNV will be recruited into the limited follow-up study. Each center will describe the study to eligible women and will verbally obtain their permission to be contacted by the Study Follow-up Specialist. The Study Follow-Up Specialist will contact the patient, explain the study, and obtain full written informed consent.
When the infants reach 24 months of age, the Study Follow-up Specialist will send all participants an age- appropriate Ages and Stages Questionnaire (ASQ) for completion. At the age of 3, the following exams will be performed and are described below: * The Vineland-II Adaptive Behavior Scale (VABS) * Wechsler Preschool and Primary Scale of Intelligence IV (WPPSI-IV), or Wechsler Intelligence Scale for Children - Fifth Edition (WISC-V, for siblings older than 7 years 7 months, when necessary) * Children will also be photographed (for review by the study dysmorphologist)
Full Scale Intelligence Quotient (IQ) score
Full Scale IQ score from the Wechsler Preschool and Primary Scale of Intelligence IV or Wechsler Intelligence Scale for Children 5th edition
Time frame: age 3 years
Percent of subjects with specific commonly occurring CNVs
Time frame: detected prenatally
Percent of subjects with seizure disorders
Time frame: age: up to 3 years
Percent of subjects with cerebral palsy
Time frame: age: up to 3 years
Percent of subjects with dysmorphic features diagnosed by dysmorphologist
Time frame: age 3 years
Percent of subjects with structural anomalies
Time frame: age: up to 3 years
Verbal Comprehension composite score
Verbal Comprehension composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Time frame: age: up to 3 years
Visual Spatial composite score
Visual Spatial composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Time frame: age: up to 3 years
Working Memory composite score
Working Memory composite score from the Wechsler Preschool and Primary Scale of Intelligence IV
Time frame: age: up to 3 years
Communication domain score
Communication domain score from the Vineland Adaptive Behavior Scale
Time frame: age: up to 3 years
Daily Living Skills domain score
Daily Living Skills domain score from the Vineland Adaptive Behavior Scale
Time frame: age: up to 3 years
Socialization domain score
Socialization domain score from the Vineland Adaptive Behavior Scale
Time frame: age: up to 3 years
Motor Skills domain score
Motor Skills domain score from the Vineland Adaptive Behavior Scale
Time frame: age: up to 3 years
Adaptive Behavior Composite score
Adaptive Behavior Composite score from the Vineland Adaptive Behavior Scale
Time frame: age: up to 3 years
Age-adjusted Z scores for birth weight
Time frame: birth
Age-adjusted Z scores for birth length
Time frame: birth
Age-adjusted Z scores for head circumference
Time frame: birth
This study is completed, as verified in Mar 2019. You cannot join it, but the record below documents what was studied.
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