PROJECT NARRATIVE The goal of this study is to study the effect of an evidence-based communication tool to support patients? decision-making about noninvasive prenatal genetic testing, by focusing on the communication that takes place in the clinical encounter.

PROJECT NARRATIVE Preparation is often cited as a reason for offering and for accepting prenatal genetic screening and diagnosis. However, this term has no clear definition, and thus it is impossible either to prove benefit or to recommend best practices.

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.

Most, if not all, human diseases have one or more genetic factors that contribute to cause, likelihood of occurrence, severity, and response to existing or experimental treatments. There is a general perception that the ability to define a person's genetic makeup will lead to better health, improved treatments and a better understanding of risks to other family members. However, many genetic technologies increase uncertainty and confusion in the minds of patients, relatives, doctors, health insurers and others.