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This project will study the role of patient preferences and other factors in choices regarding use of prenatal screening for and diagnosis of chromosomal disorders in a racially/ethnically diverse population. The study will collect detailed information regarding the distribution of individual preferences for test characteristics and outcomes by racial/ethnic group, as well as other factors which may be related to choices regarding the use of these tests.

This is a competing renewal to continue our investigations of the use of molecular cytogenetic testing by array copy number analysis in prenatal diagnostic testing. We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests. Our work demonstrates that aCNA identifies all pathologic findings seen by karyotyping and provides significant incremental information in 2% of all patients tested.