Patient preferences for prenatal testing of microdeletion and microduplication syndromes

To assess pregnant women's preferences regarding prenatal testing for microdeletion and microduplication conditions, and to identify what factors might influence their decisions.

A 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.

One 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.

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. A test menu or filtering process may be a more optimal method of offering prenatal testing for microdeletion and microduplication conditions.