Women and health providers at odds on risks/benefits of noninvasive prenatal tests

see Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

The day when a simple maternal blood draw can be used to diagnose chromosomal abnormalities in a fetus has arrived. But many issues remain to be sorted out as this technology is applied. The detection of Down syndrome is its first widely used application. In the Uni­ted Kingdom and Australia, widespread use of noninvasive prenatal diagnosis (NIPD) for Down syndrome brings questions of how to present such tests to prospective parents. To understand how women view such tests as compared with health-care providers, Melissa Hill et al. conducted a National Health Service–sponsored study in England that used a series of questions designed to rank the importance of four attributes: test accuracy, time to get a result, risk of miscarriage, and completeness of information provided. The results showed that women ranked the noninvasive test as more desirable than the current invasive procedure even when told the NIPD test is less accurate. The findings demonstrate that women hold safety of the fetus as the highest consideration, with one-third of the women making choices based solely on the fact that there was no risk of miscarriage. By contrast, health-care providers were more concerned about test accuracy. The study’s results point to the need to develop effective prenatal counseling tools that help women make informed choices about new NIPD tests. —Karyn Hede, News Editor

Imaging a useful indicator of potential cardiac disease in Marfan syndrome patients

see The pulmonary artery in patients with Marfan syndrome: a cross-sectional study

Individuals with Marfan syndrome commonly experience cardiac disease, due to aortic dilatation and stiffness of the vascular system. Such individuals are prone to aortic aneurysm and dissection. Disease of the ascending aorta also correlates with dilatation of the trunk of the pulmonary artery. Rigmor Lundby, of Oslo University Hospital, conducted a magnetic resonance imaging (MRI) study of 87 patients as part of a Norwegian national study of Marfan syndrome. A multivariate analysis of the results suggested that dilatation of the pulmonary artery may occur even with no visible aortic disease. The findings also demonstrated that previous surgery on the ascending aorta correlated with dilatation of the trunk of the pulmonary artery but not of the root. The majority of the patients with dilation of the trunk of the pulmonary artery also had aortic disease (40 of 47), but the remainder (7 of 47) showed no immediate sign of aortic disease. Echocardiography showed that none of the study participants had high pressure in the pulmonary artery. The author therefore suggests that dilation of trunk of the pulmonary artery as imaged by MRI (or computed tomography) may be an early marker of vascular disease in Marfan syndrome patients. —Karyn Hede, News Editor