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Prenatal Microarray Follow-Up Study

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ClinicalTrials.gov Identifier: NCT02160938
Recruitment Status : Completed
First Posted : June 11, 2014
Last Update Posted : March 25, 2019
Sponsor:
Collaborators:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
Ronald J Wapner, MD, 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.

Condition or disease Intervention/treatment
Genetic Diseases Other: 3-year follow-up

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.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 184 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up
Study Start Date : February 2013
Actual Primary Completion Date : December 2018
Actual Study Completion Date : December 2018

Group/Cohort Intervention/treatment
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)
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)

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.



Primary Outcome Measures :
  1. Full Scale Intelligence Quotient (IQ) score [ Time Frame: 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 :
  1. Percent of subjects with specific commonly occurring CNVs [ Time Frame: detected prenatally ]
  2. Percent of subjects with seizure disorders [ Time Frame: age: up to 3 years ]
  3. Percent of subjects with cerebral palsy [ Time Frame: age: up to 3 years ]
  4. Percent of subjects with dysmorphic features diagnosed by dysmorphologist [ Time Frame: age 3 years ]
  5. Percent of subjects with structural anomalies [ Time Frame: age: up to 3 years ]
  6. Verbal Comprehension composite score [ Time Frame: age: up to 3 years ]
    Verbal Comprehension composite score from the Wechsler Preschool and Primary Scale of Intelligence IV

  7. Visual Spatial composite score [ Time Frame: age: up to 3 years ]
    Visual Spatial composite score from the Wechsler Preschool and Primary Scale of Intelligence IV

  8. Working Memory composite score [ Time Frame: age: up to 3 years ]
    Working Memory composite score from the Wechsler Preschool and Primary Scale of Intelligence IV

  9. Communication domain score [ Time Frame: age: up to 3 years ]
    Communication domain score from the Vineland Adaptive Behavior Scale

  10. Daily Living Skills domain score [ Time Frame: age: up to 3 years ]
    Daily Living Skills domain score from the Vineland Adaptive Behavior Scale

  11. Socialization domain score [ Time Frame: age: up to 3 years ]
    Socialization domain score from the Vineland Adaptive Behavior Scale

  12. Motor Skills domain score [ Time Frame: age: up to 3 years ]
    Motor Skills domain score from the Vineland Adaptive Behavior Scale

  13. Adaptive Behavior Composite score [ Time Frame: age: up to 3 years ]
    Adaptive Behavior Composite score from the Vineland Adaptive Behavior Scale

  14. Age-adjusted Z scores for birth weight [ Time Frame: birth ]
  15. Age-adjusted Z scores for birth length [ Time Frame: birth ]
  16. Age-adjusted Z scores for head circumference [ Time Frame: birth ]


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Women undergoing prenatal microarray testing during pregnancy.
Criteria

Eligibility Criteria for Enrollment into the 3 year Follow-up Cohort

Inclusion Criteria

  1. 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:

    • 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
  2. 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:

    • 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

  1. Patient refusal to allow infant follow-up through the age of three
  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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02160938


Locations
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United States, California
Center for Fetal Medicine
Los Angeles, California, United States, 90048
United States, Maryland
George Washington University Biostatistics Center
Rockville, Maryland, United States, 20852
United States, New York
Montefiore Medical Center
Larchmont, New York, United States, 10538
North Shore LIJ
Manhasset, New York, United States, 11030
Mt. Sinai Medical Center
New York, New York, United States, 10029
Columbia University
New York, New York, United States, 10032
OB/GYN Services PC
New York, New York, United States, 10075
United States, Pennsylvania
Geisinger Health System
Danville, Pennsylvania, United States, 17822
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Columbia University
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Human Genome Research Institute (NHGRI)
Investigators
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Principal Investigator: Ronald Wapner, MD Columbia University

Additional Information:
Publications of Results:
Other Publications:
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Responsible Party: Ronald J Wapner, MD, Professor and Vice Chairman for Research, Department of Obstetrics and Gynecology, Columbia University
ClinicalTrials.gov Identifier: NCT02160938     History of Changes
Other Study ID Numbers: AAAL0100
5U01HD055651 ( U.S. NIH Grant/Contract )
First Posted: June 11, 2014    Key Record Dates
Last Update Posted: March 25, 2019
Last Verified: March 2019
Keywords provided by Ronald J Wapner, MD, Columbia University:
microarray
prenatal
copy number variant
CNV
microdeletion
microduplication
genetic
Additional relevant MeSH terms:
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Genetic Diseases, Inborn