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| ID | Type | Description | Link |
|---|---|---|---|
| 5U01HD055651 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | NIH |
| National Human Genome Research Institute (NHGRI) | NIH |
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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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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:
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| 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. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 3-year follow-up | Other | 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:
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 | age 3 years |
| Measure | Description | Time Frame |
|---|---|---|
| Percent of subjects with specific commonly occurring CNVs | detected prenatally | |
| Percent of subjects with seizure disorders | age: up to 3 years | |
| Percent of subjects with cerebral palsy |
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Eligibility Criteria for Enrollment into the 3 year Follow-up Cohort
Inclusion Criteria
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:
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:
Exclusion Criteria
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Women undergoing prenatal microarray testing during pregnancy.
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| Name | Affiliation | Role |
|---|---|---|
| Ronald Wapner, MD | Columbia University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Center for Fetal Medicine | Los Angeles | California | 90048 | United States | ||
| George Washington University Biostatistics Center |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23215555 | Background | 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. | |
| 22955112 | Background | 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. |
| Label | URL |
|---|---|
| An online community providing information about prenatal chromosome microarray testing for both patients and providers with the goal of engaging families in research. | View source |
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| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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|
| age: up to 3 years |
| Percent of subjects with dysmorphic features diagnosed by dysmorphologist | age 3 years |
| Percent of subjects with structural anomalies | age: up to 3 years |
| Verbal Comprehension composite score | Verbal Comprehension composite score from the Wechsler Preschool and Primary Scale of Intelligence IV | age: up to 3 years |
| Visual Spatial composite score | Visual Spatial composite score from the Wechsler Preschool and Primary Scale of Intelligence IV | age: up to 3 years |
| Working Memory composite score | Working Memory composite score from the Wechsler Preschool and Primary Scale of Intelligence IV | age: up to 3 years |
| Communication domain score | Communication domain score from the Vineland Adaptive Behavior Scale | age: up to 3 years |
| Daily Living Skills domain score | Daily Living Skills domain score from the Vineland Adaptive Behavior Scale | age: up to 3 years |
| Socialization domain score | Socialization domain score from the Vineland Adaptive Behavior Scale | age: up to 3 years |
| Motor Skills domain score | Motor Skills domain score from the Vineland Adaptive Behavior Scale | age: up to 3 years |
| Adaptive Behavior Composite score | Adaptive Behavior Composite score from the Vineland Adaptive Behavior Scale | age: up to 3 years |
| Age-adjusted Z scores for birth weight | birth |
| Age-adjusted Z scores for birth length | birth |
| Age-adjusted Z scores for head circumference | birth |
| Rockville |
| Maryland |
| 20852 |
| United States |
| Montefiore Medical Center | Larchmont | New York | 10538 | United States |
| North Shore LIJ | Manhasset | New York | 11030 | United States |
| Mt. Sinai Medical Center | New York | New York | 10029 | United States |
| Columbia University | New York | New York | 10032 | United States |
| OB/GYN Services PC | New York | New York | 10075 | United States |
| Geisinger Health System | Danville | Pennsylvania | 17822 | United States |
| University of Pennsylvania | Philadelphia | Pennsylvania | 19104 | United States |
| 24569858 | Result | 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. |