Browsing by Subject "newborn screening"

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    Attitudes About the Use of Newborn Dried Blood Spots for Research: A Survey of Underrepresented Parents
    (Elsevier, 2015-09) Hendrix, Kristin S.; Meslin, Eric M.; Carroll, Aaron E.; Downs, Stephen M.; Department of Pediatrics, IU School of Medicine
    Objective To identify the relative importance of factors that impact parents’ attitudes toward use of their child’s dried newborn blood spots for research purposes. Methods Respondents were parents aged 18 and older with at least one child aged 17 or younger born in Indiana visiting an urban pediatrics clinic. They were asked to rate the acceptability of hypothetical scenarios involving the research use of blood spots. Three pieces of information varied between the scenarios: 1) who would be conducting the research; 2) whether the child’s identity would be linked to the spots; and 3) whether and how often the parents’ consent would be sought before the research began. Results A total of 506 predominantly black and low-income parents completed the survey. The conjoint analysis model showed good fit (Pearson’s R = 0.998, P < .001). The rank order of factors affecting parents’ attitudes was: 1) consent (importance score = 64.9), 2) whether the child’s identity was linked to the spot (importance score = 19.4), and 3) affiliation of the researcher using the spots (importance score = 14.6). Respondents preferred being asked for their consent each time their children’s spots would be used. They preferred that the children’s identity not be linked to the spots and that the research be conducted by university researchers, though these issues had less impact on attitudes than consent. Conclusions Parents strongly prefer that consent be sought for each use of their children’s blood spots. These findings have implications for future research and policy-making decisions.
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    Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
    (Elsevier, 2017-02) Farrell, Philip M.; White, Terry B.; Ren, Clement L.; Hempstead, Sarah E.; Accurso, Frank; Derichs, Nico; Howenstine, Michelle; McColley, Susanna A.; Rock, Michael; Rosenfeld, Margaret; Sermet-Gaudelus, Isabelle; Southern, Kevin W.; Marshall, Bruce C.; Sosnay, Patrick R.; Department of Pediatrics, School of Medicine
    Objective Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria. Study design To improve diagnosis and achieve standardized definitions worldwide, the CF Foundation convened a committee of 32 experts in CF diagnosis from 9 countries to develop clear and actionable consensus guidelines on the diagnosis of CF and to clarify diagnostic criteria and terminology for other disorders associated with CFTR mutations. An a priori threshold of ≥80% affirmative votes was required for acceptance of each recommendation statement. Results After reviewing relevant literature, the committee convened to review evidence and cases. Following the conference, consensus statements were developed by an executive subcommittee. The entire consensus committee voted and approved 27 of 28 statements, 7 of which needed revisions and a second round of voting. Conclusions It is recommended that diagnoses associated with CFTR mutations in all individuals, from newborn to adult, be established by evaluation of CFTR function with a sweat chloride test. The latest mutation classifications annotated in the Clinical and Functional Translation of CFTR project (http://www.cftr2.org/index.php) should be used to aid in diagnosis. Newborns with a high immunoreactive trypsinogen level and inconclusive CFTR functional and genetic testing may be designated CFTR-related metabolic syndrome or CF screen positive, inconclusive diagnosis; these terms are now merged and equivalent, and CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis may be used. International Statistical Classification of Diseases and Related Health Problems, 10th Revision codes for use in diagnoses associated with CFTR mutations are included.