Cardiovascular findings in duplication 17p11.2 syndrome.

PURPOSE: Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities. METHODS: Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution. RESULTS: Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed. CONCLUSION: Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.

Clinical correlates of pain with amniocentesis.

OBJECTIVE: The purpose of this study was to determine whether sensory or affective dimensions of pain with genetic amniocentesis are associated with identifiable clinical correlates. STUDY DESIGN: Women completed the short-form McGill Pain Questionnaire after second-trimester genetic amniocentesis. The effect of maternal weight, parity, previous amniocentesis, previous surgery, history of menstrual cramps, maternal anxiety, presence of fibroid tumors, and depth and location of needle insertion on pain intensity was determined. The T-test, correlation matrix, Kruskal-Wallis test, and multiple logistic regression were used for analysis; a probability value of <.05 was considered significant. RESULTS: One hundred twenty-one women were enrolled: 19.3% reported no pain, 42.9% described the pain as mild, 31.1% described the pain as discomforting, and 6.7% described the pain as distressing or horrible. Mean intensity of pain was 1.6+/-1.3 (on a scale of 0-7). Pain was most often described as sharp, cramping, fearful, and stabbing. Anxiety and pain were increased in women with an indication of abnormal serum screen as compared with women with advanced maternal age. Anxiety and a history of menstrual cramps were associated with increased affective dimensions of pain and had moderate correlation with quantified pain intensity. A history of previous amniocentesis and needle insertion in the lower one third of the uterus were associated with increased pain. Maternal weight, parity, previous surgery, fibroid tumors, and depth of needle insertion were not correlated with perceived pain. Presence or absence of an accompanying person was not associated with pain intensity. CONCLUSION: Women report mild pain or discomfort with genetic amniocentesis. Increased pain is associated with increased maternal anxiety, a history of menstrual cramps, a previous amniocentesis, and insertion of the needle in the lower uterus.