Differences in genetic counseling student responses to intense patient affect: A study of students in North American programs.

Research indicates genetic counseling patients often experience intense emotions. No studies, however, have investigated how genetic counseling students respond to patient affect. This survey study investigated student responses to patient emotions and select factors affecting their responses. One-hundred fifty-one genetic counseling students in North American programs wrote a response to each of three hypothetical prenatal scenarios, identical except for the patient affect expressed (anger, fear, or sadness). They also completed measures of empathy tendency and tolerance of negative affect and demographic questions. Multivariate analysis of covariance (MANCOVA), used to analyze the effects of major study variables on the types of responses given by participants, was significant. Follow-up univariate ANCOVAs indicated small to moderate effect sizes for student clinical experience, race/ethnicity, and relationship status within and across scenarios. For example, as number of patients counseled increased, participants used more feeling reflections and fewer self-involving statements. There were no significant differences in responses due to empathy tendency or affect tolerance. Most common responses were information provision and feeling reflections for the Anger scenario, information provision for the Fear scenario, and influencing responses for the Sadness scenario. Responses to each scenario typically involved multiple thoughts (range: 1-14; means ranged from 3.25 in the Sadness scenario to 3.62 in the Fear scenario). Most students (82%) reported the Anger scenario was the most difficult. Thematic analysis of reasons a scenario was difficult yielded four themes: Discomfort with situation/emotion, Positive countertransference, Uncertain how to respond, and Negative countertransference. Findings that clinical experience affects how participants responded to patient affect support the essential role of applied experience. Findings also support training and supervision to help genetic counseling students in North America learn ways to respond to strong patient emotions and recognize and manage countertransference.

Life-Threatening Aortic Dissection during Pregnancy: A Case Report of Undiagnosed FBN1-Related Marfan Syndrome at 39 Weeks Gestation.

BACKGROUND Inherited deficiencies in the FBN1 gene, which encodes fibrillin-1, result in Marfan syndrome, an autosomal dominant connective tissue disorder that is associated with aortic root dilatation and predisposes to aortic dissection. This report is of a 37-year-old woman presenting at 39 weeks of pregnancy with acute thoracic aortic dissection due to previously undiagnosed FBN1-related Marfan syndrome. This case report aims to illustrate the challenges in the diagnosis and in the peri-operative management of acute aortic dissection during pregnancy. CASE REPORT A healthy 37-year-old woman at 39 weeks of gestation presented to our hospital with dyspnea and chest pain. Initial evaluation for pulmonary embolism with chest computed tomography was unrevealing. The patient was admitted to the intensive care unit for further management. Overnight, her clinical conditions deteriorated, and a transthoracic echocardiography was obtained, demonstrating an acute ascending aortic dissection. She emergently underwent a successful combined cesarean section and ascending aortic dissection repair, with no immediate complications. On postoperative day 4 she developed cardiac tamponade, for which she underwent emergent mediastinal exploration. She was discharged home on postoperative day 10. A month later she completed genetic testing, which revealed a pathogenic mutation in the FBN1 gene, consistent with a molecular diagnosis of Marfan syndrome. CONCLUSIONS This report has shown that FBN1-related Marfan's syndrome has a variable clinical presentation that can include life-threatening aortic dissection during pregnancy. Successful diagnosis and management of these patients is challenging and requires multidisciplinary expertise, including confirmation of the diagnosis by a clinical geneticist.