Genetic Diseases Clinical Trial
Official title:
Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis: Follow-Up
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:
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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