Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Columbia University
With
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Human Genome Research Institute (NHGRI)
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.
Age
18–any
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Eligibility Criteria for Enrollment into the 3 year Follow-up Cohort
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
* CNVs of uncertain or known significance, some of which were not reported to the patient
* Mosaic findings by karyotype and/or microarray alone.
You may not be if
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.
