Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
184 participants
OBSERVATIONAL
2013-02-28
2018-12-31
Brief Summary
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Detailed Description
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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
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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3 year follow-up cohort
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)
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)
Limited follow-up cohort
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.
No interventions assigned to this group
Interventions
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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)
Eligibility Criteria
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Inclusion Criteria
* Infants diagnosed during prenatal diagnostic studies performed at the10 pre-specified prenatal diagnostic centers
* Infants diagnosed by analysis of microarrays performed at the collaborating laboratories
* Infants referred through the Prenatal Microarray Resource Center website
* Children who will be at least 3 years of age by January of 2018, and who had a prenatally detected CNV \<10 Mbs, either pathogenic or of uncertain significance OR
* CNVs of uncertain or known significance, some of which were not reported to the patient
* Mosaic findings by karyotype and/or microarray alone.
Exclusion Criteria
2. Patient not fluent in the English language
3. Patient under the age of 18
4. In surrogate pregnancies, the "rearing parents" are unavailable to give consent.
18 Years
ALL
No
Sponsors
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
National Human Genome Research Institute (NHGRI)
NIH
Columbia University
OTHER
Responsible Party
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Ronald J Wapner, MD
Professor and Vice Chairman for Research, Department of Obstetrics and Gynecology
Principal Investigators
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Ronald Wapner, MD
Role: PRINCIPAL_INVESTIGATOR
Columbia University
Locations
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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
Countries
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References
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Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382.
Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med. 2013 Feb;15(2):139-45. doi: 10.1038/gim.2012.113. Epub 2012 Sep 6.
Bernhardt BA, Kellom K, Barbarese A, Faucett WA, Wapner RJ. An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing. J Genet Couns. 2014 Dec;23(6):938-47. doi: 10.1007/s10897-014-9702-y. Epub 2014 Feb 27.
Other Identifiers
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AAAL0100
Identifier Type: -
Identifier Source: org_study_id
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