Prenatal Microarray Follow-Up Study

Completed

• Conditions: Genetic Diseases
• Interventions: Other: 3-year follow-up

• 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.

Study Timeline

• Study Start: 2013-02
• Study First Submitted: 2014-06-10
• Study First Submitted QC: 2014-06-10
• Study First Posted: 2014-06-11
• Primary Completion: 2018-12
• Study Completion: 2018-12
• Status Verified: 2019-03
• Last Update Submitted: 2019-03-21
• Last Update Posted: 2019-03-25

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 184

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
3 year follow-up cohort	3-year follow-up	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)

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 structural anomalies	age: up to 3 years
Percent of subjects with dysmorphic features diagnosed by dysmorphologist	age 3 years
Percent of subjects with specific commonly occurring CNVs	detected prenatally
Percent of subjects with seizure disorders	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
Age-adjusted Z scores for head circumference	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

Trial Locations

Locations (9)

Mt. Sinai Medical Center; 🇺🇸 New York, New York, United States

Center for Fetal Medicine; 🇺🇸 Los Angeles, California, United States

North Shore LIJ; 🇺🇸 Manhasset, New York, United States

George Washington University Biostatistics Center; 🇺🇸 Rockville, Maryland, United States

Geisinger Health System; 🇺🇸 Danville, Pennsylvania, United States

Columbia University; 🇺🇸 New York, New York, United States

OB/GYN Services PC; 🇺🇸 New York, New York, United States

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States

Montefiore Medical Center; 🇺🇸 Larchmont, New York, United States