NCT02160938

Prenatal Microarray Follow-Up Study

Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 184 (actual)
• Sponsor: Columbia University · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Genetic Diseases

Interventions

Type	Name	Description
OTHER	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 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)

Timeline

• Start date: 2013-02-01
• Primary completion: 2018-12-01
• Completion: 2018-12-01
• First posted: 2014-06-11
• Last updated: 2019-03-25

Locations

9 sites across 1 country: United States