Patient preferences for prenatal testing of microdeletion and microduplication syndromes

ObjectiveTo assess pregnant women's preferences regarding prenatal testing for microdeletion and microduplication conditions, and to identify what factors might influence their decisions. MethodA written questionnaire was administered to pregnant women presenting for prenatal ultrasound. The questionnaire described the salient features of six microdeletion and microduplication syndromes of varying penetrance. Women were asked to indicate whether they would choose to test for each condition via an invasive diagnostic procedure, a non-invasive blood test, or not at all. Demographic and obstetrical data were also obtained. ResultsOne hundred twenty-four women returned the questionnaire (response rate 89.2%). More than half of women (50.8%) made distinctions between conditions and would choose a mixture of invasive testing, non-invasive testing, and no testing, depending on the condition. Testing preferences differed based on penetrance and features of the conditions. Prior prenatal testing, ethnicity, and education level were significantly associated (p<0.05) with testing decisions. ConclusionPregnant women do not perceive all microdeletion and microduplication conditions to be equal, and prenatal testing for such conditions is not always considered an all or none process. A test menu or filtering process may be a more optimal method of offering prenatal testing for microdeletion and microduplication conditions. (c) 2015 John Wiley & Sons, Ltd. What is already known about this topic? Chromosomal microarray (CMA) detects a clinically significant microdeletion or microduplication in 1.7% of all pregnant women, and 6% of pregnant women with structurally abnormal ultrasounds. ACOG now recommends prenatal CMA be made available to all pregnant women Pregnant women have expressed general interest in prenatal screening for microdeletion and microduplication conditions via non-invasive methods, but have questioned the utility and actionability of testing for conditions that have varied phenotypic outcomes What does this study add? Pregnant women do not perceive all microdeletion and microduplication conditions to be equal, and prenatal testing for such conditions is not always considered an all or none process. Results of the study may inform clinical practice by suggesting that a test menu or filtering process is a more optimal method of offering prenatal screening and testing for microdeletion and microduplication conditions based on patient's preferences.