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: 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.
Study Type
OBSERVATIONAL
Enrollment
184
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)
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
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
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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
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