What are the aims of the study?
The goal of this study is to improve our understanding of the impact CNVs have on health. The objectives of the study are to:
• Determine how often specific CNVs are found during prenatal testing.
• Describe how children diagnosed prenatally with a CNV grow and develop.
• Evaluate the educational, counseling and other needs of women and healthcare providers as chromosomal microarray testing becomes a standard prenatal test.
Who is eligible to participate?
This study is for women who had a deletion or duplication Copy Number Variants (CNVs) discovered during pregnancy by chromosomal microarray testing following a CVS or amnio. Parents of children who are three years of age or younger are eligible.
What does participation mean?
The study specialist will either call or email you every 6 months to get a brief update on your child’s health and milestones. A questionnaire will be sent for completion at age 2 to assess development of your child, and a study visit will be performed at age 3 that will include a questionniare to evaluate development, a test to evaluate your child's IQ and photographs. For more information, or to participate, contact Amita Russell, research coordinator, Columbia University, abr2143@columbia.edu or 1-855-77-ARRAY (855-772-7729).
How will my participation help?
Up until recently, the only information we had about CNVs came from children who came to medical attention because of a health or developmental issue. This information is not the complete picture, and typically represents the most severely affected individuals. It is possible that typically developing children with CNVs are never brought to medical attention – so we never know that the CNV is not causing them any issues. We need to study children from birth to better understand what, if any, effects are associated with specific CNVs so that we can see the entire range of possible outcomes. This will allow us to better counsel parents in the future.
