Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present clinical as well as ethical, legal, and social challenges. Many individuals who carry a deleterious mutation are largely asymptomatic and therefore may not be diagnosed until after the occurrence of a personal or family member’s cardiac event. The familial nature of inherited genetic information raises numerous ethical, legal, and social issues regarding the sharing of genetic information, particularly when an individual found to carry a deleterious mutation refuses to disclose his or her results to at-risk family members who could benefit from life-saving treatments. This qualitative study sought to understand the experiences with genetic testing for individuals (n= 50) with a personal or family history of cardiac events or sudden death. Unstructured in-person focus groups or interviews were conducted for each participant in the study. The recordings of these interviews were transcribed verbatim and subsequently analyzed and coded. Participants’ comments regarding sharing of genetic information centered around four main themes: (1) motivation to disclose; (2) extent of disclosure; (3) effect of disclosure on family dynamics; and (4) reasons for not sharing genetic information. The majority of individuals believed that affected individuals are obligated to disclose genetic information to family members. In the era of personalized medicine, the disclosure of genetic information provides individuals the opportunities to learn about the genetics, disease characteristics, and treatment options in order to reduce morbidity and mortality in themselves and their family members. Further research is necessary to identify and explore the barriers to sharing genetic information with at-risk family members.
Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.
Objectives: In January 2016, in response to the CDC and NYS health department guidelines, we established a centralised screening, testing and counselling program for all pregnant women with possible travel exposure to Zika virus (ZIKV) infection. We report on ultrasound, laboratory and pregnancy outcome data in the midst of an unclear scenario of possible epidemic. Methods: Retrospective analysis of all pregnant women tested for ZIKV infection between 1/2016-1/2017 through a centralised testing program established within our academic medical centre. All data were collected from electronic medical records. Descriptive statistics were conducted using STATA 11. Results: 504 of 7320 screened (6.8%) had ZIKV testing. Mean age was 29 and 72% were Hispanic. 48% were exposed >14d mostly (76%) in 1st trimester. Only 8% reported ZIKV symptoms. Average end of exposure to testing time was 54d. 14 (3%) tested positive and 11 of them had symptoms. In 2 (14%) head circumference (HC)<2SD was seen in 2 nd trimester which later resolved. 8 (1.6%) had equivocal ZIKV testing and 2 of them had ZIKV symptoms. 2 had abnormal ultrasound findings: One with anencephaly terminated and another had a dysplastic corpus callosum, ventriculomegaly and small cerebellum. The findings were confirmed postnatally. 21 (4.1%) were ZIKV negative but had ultrasound findings that could be attributed to ZIKV. 14 had HC<2SD; one terminated, 3 lost to follow-up, one demise, 6 had normal postnatal scan, 2 had abnormal findings that resolved and one had persistent abnormal development. 7 had other CNS findings: one anencephaly, 2 were lost, 3 had normal postnatal scan and one had persistent abnormal development.416 (82.5%) had negative testing and normal ultrasound. Pregnancy outcomes were available for 352 (84.6%) and no ZIKV related postnatal abnormalities were reported in this group. Conclusions: The yield of universal ZIKV testing for all travellers to ZIKV endemic areas is poor. The recent change in guidelines recommending testing only symptomatic travellers appears reasonable. Conclusions:The FTI is fairly constant throughout pregnancy, simple to perform, and supplements f-TAPSE with a calibration of heart size, making it a more sensitive measurement. We suggest adding the FTI to fetal heart functional assessment in healthy and pathological cases. OP10.03 Fetal TAPSE index (FTI): a novel fetal heart function index in pathological casesObjectives: Various tests are applied to evaluate fetal heart function in cases of cardiac and extra-cardiac disorders: MPI and SF in the left ventricle and f-TAPSE to right heart assessment. We devised an index adjusting f-TAPSE for the size of the heart by calibrating the measure to heart length, thus obtaining a sensitive index in cases where heart dimensions deviate from normal for GA or EFW. We aimed to evaluate the f-TAPSE index (FTI) in pathological cases of CHD and extracardiac disorders such as TTTS, diaphragmatic hernia, placental tumours, fetal anemia, and others. Methods: F-TAPSE was obtained for 132 fetuses wi...
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