Evaluating Expanded Noninvasive Prenatal Screening

Abstract

Public attention has been drawn recently to the commercial availability of noninvasive prenatal screening for rare genetic conditions, despite estimates that the positive predictive value of such tests is low. Many have focused on the importance of educating patients on the difference between screening and diagnostic testing so that they are adequately prepared for the possibility of a false-positive result. Even so, we question whether expanded noninvasive prenatal screening is ready to be used a screening tool. We argue that established public health criteria for evaluating the risks and benefits of a screening tool should be applied to expanded noninvasive prenatal screening. If a test fails to meet accepted standards, governmental agencies should consider regulating the accuracy and promotional claims of commercially available tests.