- Explain that testing is optional
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- Calculate the patient's a priori risk for each condition based on age, family history, maternal health, or environmental exposures
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- Explain that screening and diagnostic testing options are available to all individuals
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- Clarify the difference between the two types of testing
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- Review clinical features and variability of conditions for which testing may be available
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- Describe technology of the test
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- Describe performance of the test: sensitivity/specificity, positive/negative predictive value, risk/benefit
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- Explain that negative or low-risk screening result does not guarantee a healthy child
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- Explain that positive or high-risk screening result does not mean that the fetus is affected
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- Review the concept of residual risk
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- Discuss potential for unanticipated information, variant of uncertain significance, incidental findings
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- Discuss timing and format of test results disclosure
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