Browsing by Subject "Counseling"

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  • Gyllenberg, Frida; Tekay, Aydin; Saloranta, Tuire; Korjamo, Riina; Heikinheimo, Oskari (2021)
    Objective: To assess how women's reproductive history, contraceptive experience and need of abortion care are associated with priorities for contraception. Study Design: In this cross-sectional survey study, we gathered information on women's history of births and abortions, previous use and satisfaction with contraceptive methods, and features of contraceptive methods they value most. Women were recruited at public family planning and outpatient abortion clinics in the capital region of Helsinki, Finland. Results: Of the 1006 women responding, 502 were recruited during visits for abortion care and 504 for contraceptive counseling. Women seeking abortion care more often had a history of abortion than women seeking contraceptive counseling (44% vs 11%), presented with a higher mean number of different contraceptive methods used (69% vs 55% with more than 2 previous methods), and were less often satisfied with the methods used (36% vs 60% satisfied with 2 out of 3 methods), p < 0.001 for all. In addition, women seeking abortion care had lower odds of prioritizing effectiveness (aOR 0.3, 95% CI 0.2-0.5), and higher odds of prioritizing lower hormonal levels or non-hormonal alternatives (aOR 2.0, 95% CI 1.3-3.2). There was no difference between the groups regarding priorities of lesser pelvic pain (aOR 0.7, 95% CI 0.5-1.1), regular period (aOR 01.2, 95% CI 0.8-1.9), or the method being easy to use (aOR 1.2, 95% CI 0.8-1.8). Conclusions: There is a contrast between guidelines emphasizing effectiveness in postabortion contraception, and many women's contraceptive priorities. Implication statement: Clinicians providing contraceptive counseling must be mindful of each individual's personal contraceptive priorities. (C) 2021 The Authors. Published by Elsevier Inc.
  • Hathaway, Julie; Heliö, Krista; Saarinen, Inka; Tallila, Jonna; Seppala, Eija H.; Tuupanen, Sari; Turpeinen, Hannu; Kangas-Kontio, Tiia; Schleit, Jennifer; Tommiska, Johanna; Kytola, Ville; Valori, Miko; Muona, Mikko; Sistonen, Johanna; Gentile, Massimiliano; Salmenpera, Pertteli; Myllykangas, Samuel; Paananen, Jussi; Alastalo, Tero-Pekka; Helio, Tiina; Koskenvuo, Juha (2021)
    Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. Our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world. Methods A retrospective review of patients with a suspected clinical diagnosis of HCM referred for genetic testing at Blueprint Genetics was undertaken. The analysis included syndromic, myopathic and metabolic etiologies. Genetic test results and variant classifications were extracted from the database. Variants classified as pathogenic (P) or likely pathogenic (LP) were considered diagnostic. Results A total of 1376 samples were analyzed. Three hundred and sixty-nine tests were diagnostic (26.8%); 373 P or LP variants were identified. Only one copy number variant was identified. The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the RASopathy genes. Two percent of diagnostic variants were in genes associated with a cardiomyopathy other than HCM or an inherited arrhythmia. Clinical variables that increased the likelihood of identifying a diagnostic variant included: an earlier age at diagnosis (p <0.0001), a higher maximum wall thickness (MWT) (p <0.0001), a positive family history (p <0.0001), the absence of hypertension (p = 0.0002), and the presence of an implantable cardioverter-defibrillator (ICD) (p = 0.0004). Conclusion The diagnostic yield of genetic testing in this heterogeneous cohort of patients with a clinical suspicion of HCM is lower than what has been reported in well-characterized patient cohorts. We report the highest yield of diagnostic variants in the RASopathy genes identified in a laboratory cohort of HCM patients to date. The spectrum of genes implicated in this unselected cohort highlights the importance of pre-and post-test counseling when offering genetic testing to the broad HCM population.
  • Eskelinen, Saana; Niemi, Maija; Niemelä, Solja; Vasankari, Tuula (2020)