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1
Araia, Makda. "Newborn Screening Education: A Survey of Ontario Mothers." Thesis, Université d'Ottawa / University of Ottawa, 2011. http://hdl.handle.net/10393/20333.
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Purpose and methods: Effective parental education about newborn screening (NBS) may help to maximize the benefits and minimize the harms of screening. We investigated experiences, knowledge and opinions regarding NBS education among Ontario mothers. Mothers whose infants recently received NBS were invited to complete a mailed survey (n=1712).
Results: Of the 750 participants, 93% recalled their infant receiving NBS, while 69% recalled receiving information about NBS. Of this group, fewer than 50% reported receiving information prenatally, yet a majority of mothers (64%) viewed this as the most important time for education. Those who received information prenatally reported higher satisfaction (OR 2.4). The 40% of mothers who recalled being informed about the meaning of results had higher knowledge about NBS (OR 2.7) and reported higher satisfaction (OR 4.2).
Conclusions: Parental education about NBS could place greater emphasis on the prenatal period and on fostering understanding about the meaning of results.
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Rahman, Alvi. "Estimating Screening Results Following the Introduction of Next-generation Sequencing Into Newborn Screening." Thesis, Université d'Ottawa / University of Ottawa, 2017. http://hdl.handle.net/10393/36988.
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Objective: The objective of this thesis was to estimate the impact on newborn screening (NBS) results of changing screening technology from tandem mass spectrometry (MS/MS) to an approach using targeted next-generation sequencing (T-NGS) and MS/MS in parallel.
Methods: We integrated results of an analysis of MS/MS screening data for phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency; and a query of genetic compendia for variants of genes associated with the two disorders.
Results: The introduction of T-NGS into NBS may reduce nearly 80% of false positives that are generated using the current screening approach. Based on estimated NBS results, T-NGS may be applied using a second-tier approach, which may improve specificity while maintaining sensitivity at its current level.
Discussion: T-NGS may enhance the performance of NBS for PKU by improving specificity when used as a second tier test, but may be limited by feasibility and cost under current circumstances. Future studies should consider the cost-effectiveness of T-NGS for all infants undergoing NBS.
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Buser, Karen N. Kamiri. "Parental Attitudes Regarding Newborn Screening for Duchenne Muscular Dystrophy." Case Western Reserve University School of Graduate Studies / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=case1307627473.
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Ossler, Sarah. "Attitudes and Beliefs toward Expanded Newborn Screening in Colombia." University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1399629916.
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Lai, Yoke Fei. "Comparison of screening protocols for congenital adrenal hyperplasia (CAH) in the New South Wales Newborn Screening Programme." Thesis, The University of Sydney, 2022. https://hdl.handle.net/2123/29574.
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Congenital adrenal hyperplasia (CAH) is a group of disorders with autosomal recessive inheritance and an incidence approximately 1:14 000 to 1:18 000 worldwide. The NSW Newborn Screening Programme currently screens all newborns born in NSW and the ACT for salt-wasting CAH by measuring 17α-hydroxyprogesterone (17αOHP) level using immunoassay, followed by a second-tier liquid chromatography tandem mass spectrometry (LC-MS/MS) steroid profile. Any newborn with a calculated ratio of (17α-hydroxyprogesterone (MS17αOHP)+androstenedione(A4))/cortisol>2 or MS17αOHP concentration>200nmol/L is deemed screen positive with the current protocol and therefore requires referral for diagnostic testing and, if proven to have CAH, referred for management.
In this study, three analytical techniques (fluoroimmunoassay, LC-MS/MS, and next generation sequencing using targeted variant analysis) were compared. As well, stratification of action limits for birthweight and gestational age, and for the LC-MS/MS assay additional steroids that could be measured on the same sample at the same time were evaluated to determine whether performance indicators could be improved. After assessing the screening efficacy, result notification time, and analytical cost for each method, immunoassay and LC-MS/MS remained the preferred screening methods at this time in comparison to NGS.
This study conducted on dried blood spot samples received from May 2018 to Feb 2022 found that the use of a two-tier protocol using immunoassay as a first tier and LC-MS/MS as a second tier remained the optimal analytical protocol. There were 16 proven cases of CAH from 388 416 babies giving an observed incidence of 1:24 276. This study proposes using MS17αOHP action limit of 40.1nmol/L in combination with the ratios (MS17αOHP+A4)/cortisol of 1.2 and MS17αOHP/cortisol of 1.6 to detect SW CAH.
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Турова, Людмила Олександрівна, Людмила Александровна Турова, Liudmyla Oleksandrivna Turova, V. Petroshenko, and W. A. Alsaedi. "Modern Methods of neonatal screening." Thesis, Сумський державний університет, 2013. http://essuir.sumdu.edu.ua/handle/123456789/32305.
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Neonatal screening is a program, which aims at early identification of conditions for which early and timely intervention can prevent or reduce associated mortality and morbidity. The most modern screening technology is the tandem mass spectrometry (tandem MS; MS/MS). MS/MS-newborn screening requires confirmatory testing and clinical evaluation before a diagnosis can be made.
When you are citing the document, use the following link http://essuir.sumdu.edu.ua/handle/123456789/32305
7
Daniels, Molly Serena. "PARENTS' KNOWLEDGE OF AND EXPERIENCES WITH THE OHIO NEWBORN SCREENING." University of Cincinnati / OhioLINK, 2002. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1029504389.
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Zuckerman, Shlomit. "The Expansion of Newborn Screening In Israel: Ethical and Social Dimensions." Cleveland, Ohio : Case Western Reserve University, 2009. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1247156923.
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Frei, Julia. "The provision of newborn screening: A conjoint analysis of women's preferences." Thesis, University of Ottawa (Canada), 2007. http://hdl.handle.net/10393/27843.
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Context. There has been increasing attention concerning the use of DNA-based genetic tests in health care. Many have argued that the use of genetic technologies should be subject to public debate and scrutiny. However, few in the general population can offer views informed by actual experience with genetic services. Prenatal and newborn screening programs are examples of genetic services that are routinely offered to the general population.
Objectives. To determine if conjoint analysis is a useful tool for eliciting user preferences for newborn screening services.
Methods. Discrete choice conjoint analysis (CA).
Results. Counterintuitive results identified issues concerning the validity of the CA instrument that was developed. As a result limitations to the usefulness of aggregate logit regression for the analysis of CA data were identified. Other analytical approaches, such as latent class analysis, merit further examination to determine their validity and the value of the information they may provide.
10
Spady, Donald William. "Who gets missed, coverage in the 1992 Alberta newborn screening program." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp04/mq21208.pdf.
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Lloyd, Amy. "Duchenne muscular dystrophy and reproductive decision-making : implications of newborn screening." Thesis, Cardiff University, 2009. http://orca.cf.ac.uk/55904/.
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Newborn screening programmes once focused on identifying treatable conditions. In recent years, increasing numbers of untreatable genetic conditions have been included in newborn screening programmes, on the premise that families will benefit from the provision of information, support and reproductive choice. However, there is a paucity of research documenting families' experiences of newborn screening and the implications of screening for untreatable conditions. This study focuses on one untreatable condition, Duchenne muscular dystrophy (DMD). Using both quantitative and qualitative methods, this study explores the implications of two different diagnostic pathways for reproductive decision-making newborn screening and a later clinical diagnosis (which occurs when the child is an average age of 4.5 years). Quantitative data on reproductive behaviour were collected from 72 families 38 families who received a later clinical diagnosis (LCD) in the west of Scotland, and 34 families in Wales, who received a diagnosis through newborn screening (NBS), between 1990 and 2006. Qualitative data (in-depth interviews) were collected from a subset of 19 families to explore reproductive decision-making 8 families from the LCD cohort, and 11 families from the NBS cohort. The quantitative data highlighted varied effects of providing families with an earlier awareness of risk. Families in the newborn screening cohort were more likely to continue family building, and significantly more likely to use prenatal testing (p=0.05). However, there was no association between carrier risk and reproductive behaviour and little difference in the number of second affected boys. Participants in the qualitative interviews were often ambivalent about the provision of reproductive choice. Mothers' descriptions of the importance of "choice" were juxtaposed against accounts of "ignorant bliss", profound appreciation of the "carefree years", and relief at the avoidance of "difficult decisions". The medical information provided to families was often perceived to lack experiential validity. In addition, few families felt supported. The findings suggest a need for greater consideration of the true value of providing information, "choice" and support.
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Wang, Ding. "Application of mass spectrometry in enzyme deficiency assay for newborn screening purpose /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/11557.
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Poullet-Veguilla, Paola. "Newborn hearing screening justification and guidelines for the Commonwealth of Puerto Rico." Diss., NSUWorks, 2001. https://nsuworks.nova.edu/hpd_aud_stuetd/6.
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Dissertation (Audiology, Ph. D.) --Nova Southeastern University in Ft. Lauderdale, Florida, 2001. General note Includes bibliographical references. Typescript. "A Thesis Submitted to Nova Southeastern University's Clinical Vision Research Graduate Program in Partial Fulfillment of the Requirements for the Degree of Master of Science."
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Whittemore, Jean Becky. "A Newborn Screening Disorders Online Portal for Primary Care Providers and Parents." Diss., NSUWorks, 2019. https://nsuworks.nova.edu/gscis_etd/1088.
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Parents do not always receive accurate, timely and comprehensive information regarding a positive newborn screening from their infants’ primary care providers. The dissertation outlines the investigation of this problem. The methodology of the study is discussed including the survey of parents and primary care providers using the past system, the development of a web portal with a focus on plain language and action focused handouts. Without a simple to understand parent handout the newborn screening process is more stressful to families. Review of the literature is detailed including newborn screening, patient education, health literacy, Internet usage, online health education, design of patient education websites and the evaluative process of learning tools.
Surveys informed the content of the web-based patient portal for both parents and PCP. Abbreviated parental stress scores did not identify elevated stress in parents during the initial PCP visit when the NBS results and plan of care were discussed. Evaluation of the planned web portal was permanently delayed related to change in statewide policies; thus, a standalone website was developed using Agency for Health Care Research and Quality’s patient education material tool for understandability and actionability of both patient handouts and web portals. Physician actionable NBS handouts were also developed. Formative evaluation using experts’ input, one-to-one trials and small group trials of the handouts for the site were completed with minor revisions made to the portal.
The formative evaluation using the simple survey tool would have provided any additional portal changes required. Strengths of the study to include survey response rates, rigor of the comments by both parents and PCPs as well as constructive feedback from NBS experts are highlighted. The weakness is the lack of having a final participant group identified or available related to local NBS policies. Recommendations for future research are highlighted as well as discussion of changes in federal policy that will now allow further NBS research without the limitations once imposed.
15
Chiu, Hoi-kan April, and 趙凱勤. "Racial, gender and ear factors in neonatal transient evoked otoacoustic emission screening." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B30470985.
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Thomson, Vickie Rae. "A programmatic analysis of a newborn hearing screening program for evaluation and improvement." Connect to online resource, 2007. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:3284436.
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Cochran, Brittany Paige. "Nutrition Support and Newborn Screening in the NICU Population: Is There a Link?" Thesis, Virginia Tech, 2010. http://hdl.handle.net/10919/76756.
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Background: Recent research is revealing the high rate of false-positive screening results for IEMs in the NICU population. No study published to date has specifically studied the possible relationship between nutrition and newborn screening in this population.
Objective: It is suspected that NICU infants who receive PN are more likely to have abnormal newborn screening results than infants who receive EN. An understanding of the role of nutrition will assist in developing protocols for screening in the NICU and decrease false-positives.
Design: Infants admitted to the NICU between January 1-June 30, 2009 were included in this retrospective chart review study (n=339). The type of nutrition and timing of its initiation was recorded and compared to newborn screening results to identify correlations with false-positives. Statistical analysis included means, percentages, Fisher's exact test, Chi-square test, and the Cochran-Mantel-Haenszel test.
Results: Nutrition type was significantly associated with newborn screening (p<0.001); those who received parenteral nutrition were more likely to have a false-positive. For infants who also received PN, EN of breast milk exclusively increased risk of an abnormal screen more than formula exclusively or breast milk plus formula. The timing of parenteral nutrition had no effect on screening. Premature infants who received PN exclusively had a higher percentage of false-positives than those who received EN
Conclusions: Although the hypothesis could not be statistically supported, PN appears to contribute to false-positive newborn screens. More research is needed to ascertain the role of EN and GA in newborn screening and to develop standardized protocols.Master of Science
18
Crossen, Kaylee. "Parent Experiences with Newborn Screening and Medical Management for Late-onset Pompe Disease." University of Cincinnati / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1623166079821619.
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Curlis, Yvette M. "Attitudes towards newborn screening for Pompe disease among affected adults, family members and parents of 'healthy' children /." Connect to thesis, 2009. http://repository.unimelb.edu.au/10187/7065.
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Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe disease have been identified; infantile- and late- onset. In the past decade, enzyme replacement therapy has shown promising results in treating the underlying pathology, resulting in improved clinical outcome. Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage have led to the proposition of introducing newborn screening for Pompe disease. All forms of Pompe disease are caused by the same pathology, and thus newborn screening has the potential to identify those affected with the more severe infantile-onset form as well as those with late-onset disease who may not present with symptoms until late in life.The aim of this study was to investigate attitudes towards newborn screening for Pompe disease among affected adults, their family members and parents of ‘healthy’ children. Affected adults were recruited through support groups in Australia, the United Kingdom and United States; family members of affected adults were recruited from Australia; and parents of ‘healthy’ children were recruited through maternal child health clinics in Victoria, Australia. Participants completed questionnaires exploring their experiences of Pompe disease and/or newborn screening and their attitudes towards newborn screening for Pompe disease.
Support for newborn screening for Pompe disease was high among adults with Pompe disease (85.4%), parents of ‘healthy’ children (93.9%) and all three family members of affected adults who participated in this study. However, when offered a theoretical screening test that would only identify infantile-onset Pompe disease, 42.1% of adults with Pompe disease and 53.1% of parents of ‘healthy’ children preferred this screen, indicating that these stakeholders have some concerns regarding detection of late-onset disease in infancy. Factors influencing attitudes were investigated and support for newborn screening in affected adults was highly correlated with age of onset of disease; a preference to have been diagnosed in infancy; a belief that an earlier diagnosis would have made symptoms easier to cope with; and a stronger confidence in the efficacy of enzyme replacement therapy.
Potential benefits of diagnosis of late-onset disease in infancy were identified as being able to avoid the diagnosis odyssey, access enzyme replacement therapy at the optimal time, and allow individuals to make appropriate life choices. Participants identified increased anxiety in parents and the potential for over-protectiveness, in addition to possible discrimination, as harms of newborn screening for Pompe disease.
Families in which an infant is identified with the potential for late-onset Pompe disease will need assistance to adapt to and manage this diagnosis, so that anxiety is minimised and unnecessary limitations are not placed on the child. Whilst potential medical and psychosocial benefits can result from newborn screening, it is important to carefully consider the potential for harm and the resources required to appropriately manage these so that ultimately benefit outweighs harm.
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Yau, Jessica. "Association of Newborn Screening Analytes with Type of Delivery Among Preterm and Term Births." Thesis, Université d'Ottawa / University of Ottawa, 2019. http://hdl.handle.net/10393/38700.
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Introduction: Several factors have been observed to influence the value of newborn screening analytes (NBS) and should be adjusted for in the interpretation of blood spot samples. The thesis aimed to examine the association of NBS with 1) mode of delivery among term infants and 2) clinical subtypes (i.e., spontaneous onset of labour) of birth among preterm infants.
Methods: A retrospective population-based cross-sectional study design was employed. A multivariable logistic regression model was used to examine associations between NBS and mode of delivery among term infants and subtypes among preterm infants.
Results: 1) Metabolic profiles of infants born by planned cesarean delivery differ from those born by vaginal delivery following spontaneous onset of labour and 2) Metabolic profiles of preterm infants did not differ by clinical subtype.
Conclusions: Our findings conclude that mode of delivery is an important covariate to consider in future modelling studies, but the inclusion of preterm birth subtypes is less compelling.
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Wotton, Tiffany Louise. "The impact of DNA mutational applications on the efficiency and specificity of newborn screening." Thesis, The University of Sydney, 2012. https://hdl.handle.net/2123/28826.
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The aim of a newborn screening programme is to provide the early detection of infants with a disorder resulting in a reduction in morbidity and mortality using tests that have an optimal balance between sensitivity and specificity. In most instances screening tests using DNA mutational analysis have been used to provide confirmation of abnormal levels of biochemical markers. However with high throughput automated instruments, DNA from dried blood spot samples, can not only be used as a second tier screening test for disorders such as cystic fibrosis (CF), but possibly also provide a primary screen for a large number of disorders, for example fragile X syndrome (FXS). This study evaluates the feasibility and reliability of DNA based testing on dried blood spots for CF and FXS.
CF is a severe recessively inherited disorder which mainly affects the lungs and pancreas. The current protocol for the screening for CF in NSW, initially tests for a pancreatic protein (immunoreactive trypsin, IRT). Samples with an elevated IRT are further tested for DNA mutations. If 2 mutations are detected the patient is referred to a CF clinic for treatment; if only one mutation is found, a sweat test is performed; and if no mutations are found there is no further follow-up. There are over 1500 disease causing mutations in the cystic fibrosis transmembrane conductance regulator gene with p.F508del, the most common, being the only one tested for in routine newborn screening in NSW. The next most common mutations in the NSW CF population are p.6551 D and p.G542X, both found on the same exon.
The CF screening protocol was expanded to include p.G551 D, p.G542X and p.R553X found in the same CFTR exon using high-resolution DNA melting (HRM). HRM is mainly a scanning assay but with the addition of an unlabelled probe can be used as a genotyping assay. Using HRM, 522 consecutive specimens with raised IRT and heterozygous for p.F508del were analysed. Of the 522, 77(14.8%) were confirmed to have CF by sweat testing. Using the HRM assay there were 20 babies identified with CF who were compound heterozygotes: 12 with p.G551 D; 1 with p.R553X and 7 with p.G542X. This would allow these 20/77 babies to receive appropriate treatment in less than half the time of waiting for sweat test results, thus improving morbidity.
FXS is the most prevalent heritable cause of cognitive impairment and is primarily a triplet CGG repeat disorder in the FMR1 gene. As a FXS pilot study 2094 women delivering at John Hunter Hospital were approached by a genetic counsellor in the postnatal period, and asked if they were willing to have the routine NBS sample also tested for FXS. The standard PCR screening assays for FXS are not able to identify large premutations and full mutations which fail to amplify or to differentiate between homozygous normal females and females with one expanded allele. A published method for the detection of fragile X alleles in both males and females in the normal, premutation, and full mutation ranges using a PCR assay with a chimeric CGG-targeted primer was modified to provide improved reliability when analysing routine newborn screening dried blood spot samples. Both a standard PCR-based FXS assay and the chimeric primer assay were performed in parallel to assess the results. Babies with fragile X allele sizes greater than 58 were formally reported and familial studies were undertaken to assess FMR1 allele stability upon transmission from generation to generation. Of 2000 (1013 males and 987 females) newborn screening dried blood spot samples analysed: 1986 had a CGG repeat number only within the normal range; 8 had intermediate alleles, 50 — 58 CGG repeats, (1/165 females and 1/507 males); 6 had premutation alleles, 59 - 200 CGG repeats (1/197 females and 1/1013 males). There were no samples with a CGG repeat number within the full mutation range, >200 CGG repeats. Whilst no samples had persistent PCR amplification failure, 3% required repeat testing which included 56 PCR failures, where the results were too faint to verify thus requiring re-analysis, and 5 extraction failures. For this small cohort there was complete concordance between the results for the standard fragile X assay and the chimeric assay.
In conclusion, the HRM unlabelled probe genotyping CF assay provides a rapid, reliable assay for use in newborn screening and the technique could easily be expanded to screen for additional mutations. Similarly the chimeric FXS assay can reliably identify, from routine dried blood spot samples, FMR1 alleles in the normal, premutation and full mutation ranges in both males and females. However, despite the automation used, the person time and cost required to test for FXS currently does not make it feasible for routine primary screening of newborns. At present DNA mutational analysis is useful for second tier testing on the initial sample reducing time to diagnosis and parental anxiety.
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Brusa, Margherita. "Ethical aspects of the newborn screening program : the Israeli program as a test case." Doctoral thesis, Università degli studi di Padova, 2013. http://hdl.handle.net/11577/3423471.
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Background: In the past twenty years most western countries have been expanding their newborn screening (NBS) services, relying on novel bio- and information technologies. This process has been accompanied by significant lay, ethical and legal debates regarding the structuring of the expanded program and the roles it grants to personal parental choices and values. In order to better understand expanded NBS as a health service, this research focuses on the recently expanded Israeli program and examines it from different perspectives, especially ethics, public participation and cultural awareness in pediatric public health services and programs.
Methods: This research employs three main methodologies. Historical research of primary and secondary sources; bioethical analysis in the style of analytic philosophy; qualitative methodology in the form of in depth interviews with two groups of people (the Israeli National Newborn Screening Lab and certified home birth midwives).
Results: Whereas it is customary to represent NBS as a discrete and cheap universal public health service that prevents catastrophic inborn diseases, this thesis highlights NBS as a complex practice, which have impacted the contemporary construction of childbirth as a hospital based event, and that it has been constructed as a hybrid of public health and clinical service. Despite the explicit commitment to patient autonomy and parental responsibility, the framing of choice in NBS is not in line with the standards of respect for patients’ autonomy in other areas of medicine.
The analysis of the Israeli program, data and policy exposes inconsistencies and ambiguities at the normative level as well as in the actual daily practice. This is borne out by the diverse avenues of information and communication strategies adopted. The professionals responsible for the screening program articulate commitment to universal coverage and diagnostic precision; home-birth midwives, who self-represent as an alternative to the mainstream biomedical establishment, direct their critical attention to the notion of natural birth, practically relegating newborn screening to the spheres of pathology and expert opinion. Based on the research’s findings and the literature on public participation in public services, the thesis concludes with a model for integrating public participation with expert authority in the planning of a health service such as the newborn screening.Background. In questi ultimi vent'anni, molti paesi occidentali hanno espanso il loro programma di screening neonatale, grazie alle possibilità offerte dalle nuove tecnologie a disposizione. Tale processo di ampliamento è stato accompagnato da un significativo dibattito pubblico sugli aspetti etici e legali riguardanti le modalità attraverso le quali tale ampliamento viene realizzato e sul ruolo che in esso assumono le scelte dei genitori. Con l'obiettivo di comprendere più a fondo lo screening neonatale in quanto servizio di salute, questa ricerca si focalizza sul programma di screening neonatale recentemente esteso in Israele, esaminandolo da diverse prospettive, con particolare attenzione a quella etica e alle sue implicazioni a livello di partecipazione pubblica nei programmi di salute pediatrica. Metodo. La presente ricerca utilizza tre metodologie. La ricerca storica di fonti primarie e secondarie; l'analisi bioetica dei principi che fondano lo screening neonatale; la metodologia qualitativa nell'analisi di interviste in profondità realizzate a due gruppi di persone: il team che lavora nel centro nazionale israeliano di screening neonatale e un gruppo di ostetriche che realizzano parti domiciliari. Risultati. Mentre si è soliti rappresentare lo screening neonatale come un servizio pubblico universale, indipendente e relativamente poco costoso, che permette di prevenire lo sviluppo di malattie innate dagli effetti devastanti, questa tesi mette in evidenza lo screening neonatale in quanto pratica complessa, che ha avuto un impatto importante nella costruzione contemporanea dell'evento "nascita", inteso come servizio ospedaliero, e che attualmente si articola come servizio di salute a cavallo tra la salute pubblica e la medicina clinica. A livello bioetico, nonostante l'esplicito impegno nei confronti dell'autonomia del paziente e della responsabilità parentale nelle scelte di salute relative al proprio figlio, la formulazione delle possibilità di scelta sembrano essere piuttosto distanti dagli standard di rispetto per l'autonomia dei pazienti presenti in altre aree della medicina. L'analisi del programma israeliano, in particolare, mette in luce incoerenze ed ambiguità, sia a livello normativo sia a livello di pratica quotidiana. Questo emerge dalle diverse strategie di informazione e comunicazione intraprese. I professionisti responsabili per il programma di screening neonatale esprimono il loro impegno nei confronti del raggiungimento di copertura universale e della precisione diagnostica; le ostetriche domiciliari, che percepiscono il loro lavoro come alternativo all'approccio biomedico, focalizzano la loro attenzione esclusivamente sul concetto di parto naturale, considerando lo screening neonatale come appartenente alla sfera patologica propria di personale specializzato. Sulla base di questi risultati e della letteratura sulla partecipazione pubblica nei servizi alla popolazione, la tesi conclude delineando un modello che mira ad integrare partecipazione pubblica e professionisti sanitari nella pianificazione di un servizio di salute come lo screening neonatale.
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Goldenberg, Aaron J. "Ethics at the Crossroads of Public Health and Biobanking: The Use of Michigan’s Residual Newborn Screening Bloodspots for Research." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1228421146.
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Mak, Miu, and 麥苗. "Chemical pathology analysis of inborn errors of metabolism for expanded newborn screening in Hong Kong." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B48540924.
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Inborn errors of metabolism (IEM) are under international spotlight because of the recent tremendous development in expanded newborn screening (NBS) and molecular genetics. IEM is a difficult subject involving more than 1,000 different disorders with protean clinical presentations and complicated diagnostic pathways. Cumulative incidence of IEM was reported up to 1 in 800. Patients can be affected in any ages.
High clinical suspicion alone is not sufficient to reduce morbidities and mortalities. Notably, some IEM are amenable to treatment with promising outcome. Local data regarding the disease spectrum and incidences is largely lacking. Public awareness and readiness for expanded NBS is unknown. This renders difficulties in the consideration of expanded NBS in Hong Kong.
In this study, laboratory data of classical IEM from 2005 to 2009 were retrospectively analyzed (Chapter 2). Local incidence was 1 in 4,122 and that of hyperphenylalaninemias was 1 in 29,542, similar to worldwide figures. Majority (69%) was amino acid disorders, 12% was organic acidemias and 19% was fatty acid oxidation defects. Most of these diseases are effectively amenable to treatment.
Local cases including hyperphenylalaninemia, tyrosinemia type I, arginase deficiency, ornithine transcarbamylase deficiency, very long-chain acyl-CoA dehydrogenase deficiency, tyrosine hydroxylase deficiency, thermolabile carnitine palmitoyltransferase II variants and adults IEM with X-linked adrenoleukodystrophy, cerebrotendinous xanthomatosis, familial transthyretin amyloidosis, Wilson disease and PANK2-associated young-onset Parkinsonism were described (Chapters 1.1.3 and 3).
Electronic chemical pathology consultation service and dried blood spot metabolic screening were implemented (Chapter 4). There were 279 consultations and 158 screening in a 12-month period. Major referral reasons were developmental delay, neurological defects and unexplained biochemical abnormalities. The incidence in high risk screening was 1 in 158. A non-derivatized tandem mass spectrometry assay for amino acids and acylcarnitines was evaluated for its precision, accuracy and reference intervals (Chapter 5). The concordance rate was 100% in inter-laboratory comparison and external quality assurance programs. The method was proven to be accurate, rapid and affordable. It is suitable for large volume testing and emergency diagnostic needs.
A feasibility study of a hospital-based expanded NBS service model was conducted on 360 newborns (Chapter 6). More than 90% of babies were older than 48 hours before discharge and were fit for blood collection. The service model consisted of parent education, consent, postnatal sample collection, technical analysis, clinical interpretation, reporting and follow-up actions.
Questionnaire on the knowledge and attitude towards IEM and expanded NBS was surveyed on 172 parents to investigate the psychological, social and ethical aspects (Chapter 7). Here, 99.4% demanded more education on expanded NBS; 97.6% supported to implement the program; 97.7% supported population screening even though some diseases are incurable. Availability of treatment is not the most important pre-requisite for NBS; 93.9% accepted the possibility of false positive and false negative results. Acceptance towards expanded NBS among parents was high.
Our data indicate that IEM is not uncommon in Hong Kong and it is indisputable for the introduction of a local expanded NBS program. Our data serve as groundwork for policy decision and further discussion on expanded NBS.published_or_final_version
Pathology
Master
Doctor of Medicine
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Thia, L. P. "Lung function and structure in Cystic Fibrosis infants one year after diagnosis by newborn screening." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1454071/.
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Identifying early signs of lung disease reliably in asymptomatic infants with Cystic Fibrosis (CF) diagnosed by newborn screening (NBS) is a challenge. Very little is known about the origin and progression of lung disease in these infants hence there is uncertainty on best interventions to protect the lungs of these infants from functional and structural decline. This collaborative observational study aims to assess lung function and structure in CF NBS infants. Lung function tests (LFT) were performed in contemporaneous healthy controls and CF infants at 3 months and a year of age. In addition, CF infants underwent chest computed tomography (CT) at 1 year under general anaesthesia within 2 weeks of the LFTs. At a year, CF NBS infants had impaired lung function compared to contemporaneous healthy controls. However the percentage of CF NBS infants demonstrating what was considered abnormal lung function had reduced at a year of age compared to those with abnormal result at 3 months. Although some improvements were observed at 1- year LFTs, this was not universal using the different techniques. Some measurements improved, others remained stable and certainly none deteriorated. In terms of CT structural changes in CF NBS infants, fewer abnormalities were detected in our cohort compared to other reported studies and changes seen were mild. There was poor correlation between lung function and structure in this group of CF infants. To accurately detect CF infants with impaired lung function or structural abnormalities using important physiological and clinical determinants would play an important role in the management of these infants. This study could inform power calculation for future interventional studies using relevant clinical trial endpoints related to lung function and structure.
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Huang, Yuning. "Multispectral Imaging and Miniaturized Electrophoresis Based Point-of-Care Newborn Screening for Sickle Cell Disease." Case Western Reserve University School of Graduate Studies / OhioLINK, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=case1625585518647015.
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Wilcken, Bridget. "Evaluation of newborn screening : studies in cystic fibrosis and disorders detectable by tandem mass spectrometry." Thesis, The University of Sydney, 2008. https://hdl.handle.net/2123/29181.
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I have been involved in several areas of newborn screening, and my thesis deals with two of these: -cystic fibrosis and tandem mass spectrometry. It comprises 36 papers describing work carried out between 1981 and 2008. This is arranged in sections to describe the implementation of screening and the evaluation of outcomes for each of these areas, cystic fibrosis and tandem mass spectrometry, as well as papers reviewing important general aspects of newborn screening -a review of current newborn screening, the problems of evaluation of outcome where disorders are very rare, and the ethical issues involved in screening.
I believe my major contributions to knowledge and medical practice have been:
• Fostering the recognition that the clinical diagnosis of cystic fibrosis was considerably delayed, that newborn screening was feasible in the field, and that patients with pancreatic sufficiency were readily diagnosed by newborn screening;
• The evaluation and review of different screening strategies for cystic fibrosis;
• The demonstration that identification of cystic fibrosis by screening confers a significant health benefit by greatly reducing hospitalisation in the early years, and providing nutritional and pulmonary benefits later in life;
• Initiating screening by tandem mass spectrometry in New South Wales -the first publicly-funded state-wide screening for disorders of amino acid and fatty acid metabolism -and delineating some of the disorders which could and could not be reliably detected by this technology;
• Providing the first population-based audit of the rate of diagnosis of these disorders clinically compared with diagnosis by newborn screening;
• Providing the first clear demonstration of significant clinical benefits of tandem mass spectrometry screening for the commonest disorder of fatty acid oxidation, medium-chain acyl-CoA dehydrogenase deficiency.
• Promoting the proper use of newborn screening programmes by examining the rationale for screening, ethical aspects, and what disorders should and should not be included in newborn screening programmes.
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Goldenberg, Aaron J. "Ethics at the crossroads of public health and biobanking the use of Michigan's residual newborn screening bloodspots for research /." Cleveland, Ohio : Case Western Reserve University, 2008. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=case1228421146.
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Morando, Carla. "Criticità dello screening uditivo neonatale: prospettive razionali dello screening genetico dell'ipoacusia." Doctoral thesis, Università degli studi di Padova, 2011. http://hdl.handle.net/11577/3421715.
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REVIEW OF UNIVERSAL NEWBORN HEARING SCREENING: RATIONAL PROSPECTS OF GENETIC SCREENING FOR DFNB1 RELATED DEAFNESS
Introduction: Hearing loss (HL) is the most common human birth defect occuring in 1 to 3 per thousand infants. Recent evidence for a critical period for language acquisition promoted the adoption of Universal Newborn Hearing Screening (UNHS) in many countries. In Italy UNHS was first introduced in 1997; in 2002, some hospitals of Veneto region were involved in a pilot project on UNHS and now almost all hospital birth centers has adopted it.
Concurrent with the enforcement of UNHS programs, an explosion of knowledge occurred in the field of genetics with the identification of over 100 genes associated with hearing loss. However, more than half of infants with nonsyndromic sensorineural hearing loss have identifiable mutations in only two genes: GJB2 and GJB6, located on DFNB1 locus. As GJB2 and GJB6 mutations are responsible up to 50% of autosomal recessively inherited hearing loss (the so called: DFNB1 sensorineural hearing loss, DFNB1 SNHL), even if with changes in prevalence and in specific mutation frequencies in different populations, the association of genetic screening for DFNB1 SNHL to UNHS may have several clinical and financial advantages.
The use of genetic testing for DFNB1 SNHL as an adjunct to bedside UNHS has been discussed but there are open questions limiting its implementation: what type of testing should be done: common mutations or sequencing the entire gene? How will the results be explained (e.g. the genetic test finds out a single GJB2 mutation)? What is the cost/benefit ratio?
Purpose: The aim of this thesis is to perform a critical analysis of the UNHS done in five hospitals in the region of Veneto and to discuss the advantages of the possible implementation of genetic screening for DFNB1 SNHL.
Methods: Between 2008 and 2010, a survey of five well-baby nurseries in Veneto region has been conducted to evaluate the progress of the UNHS in achieving goals established by the Joint Committee on Infant Hearing (JCIH) and to identify critical aspects of the UNHS program. Particulary, the analysis aims to describe: percentage screening coverage, type of UNHS methodological protocol, number of infants affected by SNHL identified and cases of DFNB1 SNHL, extent of the population “lost to follow up”. The hospitals envolved were Padova, Thiene (VI), Castelfranco Veneto (TV), Abano Terme (PD) and Monselice (PD). The UNHS program in these centers is organized as follows: all the nurseries screened newborns by automated transient evoked otoacoustic emissions (A-TEOAEs), the ones resulted REFER at A-TEOAEs are evaluated by automated auditory brainstem response (A-ABR) in the Pediatric Clinic of Padova within the first three months of life, if this test confirms the suspicion of hearing loss, at five months of age, the infant undergo the audiological evaluation at the Pediatric Audiology Unit of Padova Hospital. Cases of SNHL identified are addressed to the Rare Disease Laboratory of the Pediatric Clinic of Padova to perform genetic testing consisting of the complete sequencing of GJB2 and GJB6.
Results: .The coverage rate for all the centers is about 100%. Each hospital has his own UNHS protocol based on JCIH guidelines, adapted to the characteristics of the birth center (birthrate, personnel responsible for the UNHS, neonatal intensive care level). The prevalence of HL detected is 0.8%. About a half of patients with SNHL underwent DFNB1 SNHL genetic test. The percentage of patients “lost to follow up” is about 30% for infants born in the Pediatric Clinic of Padova and about 46% for the ones born in Thiene and Castelfranco Veneto.
Conclusions: All the centers perform UNHS according to JCIH guidelines, the prevalence of HL detected is concordant with the one reported in Italian infants. Characteristics of the HL as the degree of hearing loss and the bilaterality are concordant with literature. Patients affected by DFNB1 SNHL present the phenotypic variability reported by literature. Percentage of infants “lost to follow up” is considerable but slightly lower in comparison to the American reality of UNHS. Newborn genetic testing in this setting may be helpful in reducing the percentage of patients “lost to follow up”. However, as the above mentioned questions on DFNB1 SNHL genetic testing have not yet univocal answers, before its implementation, further studies are needed.CRITICITA’ DELLO SCREENING UDITIVO NEONATALE: PROSPETTIVE RAZIONALI DELLO SCREENING GENETICO DELL’IPOACUSIA Introduzione: L’ipoacusia è il deficit neurosensoriale più comune alla nascita, la sua prevalenza è stimata 1-3 ogni 1000 nati vivi. Da studi recenti emerge come vi sia un periodo critico per l’acquisizione del linguaggio, tale evidenza ha sostenuto l’adozione dello screening uditivo neonatale universale (Universal Newborn Hearing Screening, UNHS) in molti paesi. In Italia lo UNHS è stato introdotto per la prima volta nel 1997; in 2002, alcuni ospedali della regione Veneto hanno aderito a un progetto pilota sullo UNHS e oggi la quasi totalità dei centri nascita veneti lo ha adottato. Parallelamente all’adozione dei programmi di UNHS e all’identificazione precoce dei casi di ipoacusia, si è verificato un corrispondente ampliamento delle conoscenze nel campo della genetica dell’ipoacusia preverbale. In alcune popolazioni, più della metà dei casi di deficit uditivo è dovuta a mutazioni unicamente a carico di GJB2 e GJB6, poste sul locus DFNB1. Il fatto che mutazioni dei geni GJB2 e GJB6 rendono conto di almeno il 50% delle perdite uditive autosomiche recessive (chiamate DFNB1 sensorineural hearing loss, DFNB1 SNHL), benché con variazioni di prevalenza e variazioni nella frequenza di mutazioni specifiche nelle diverse popolazioni studiate, ha indotto a considerare che l’associazione dello screening genetico di DFNB1 a UNHS può presentare numerosi vantaggi da un punto di vista clinico ed economico-sanitario. Molti studi hanno valutato l’opportunità di affiancare lo screening genetico di DFNB1 a UNHS, ma vi sono ancora molte questioni non risolte: che tipo di test andrebbe eseguito: la ricerca delle mutazioni più comuni o il sequenziamento completo? Come verrebbero interpretati determinati risultati (nel caso, per esempio lo screening genetico individuasse solo una mutazione di GJB2) Il rapporto costo beneficio è favorevole? Scopo: lo scopo di questa tesi è di analizzare la modalità di esecuzione di UNHS in cinque centri nascita della regione Veneto e di valutare il razionale dell’eventuale attuazione dello screening genetico di DFNB1 SNHL. Metodi: tra il 2008 e iI 2010, è stata condotta un’indagine in 5 punti nascita della regione Veneto al fine di valutare se le modalità di esecuzione di UNHS rispondevano ai criteri stabiliti dalle linee guida internazionali stese dal Joint Committee on Infant Hearing (JCIH) e di identificare le criticità del programma di UNHS. In particolare sono stati valutati i seguenti parametri: copertura dello screening, tipo di protocollo per l’esecuzione di UNHS, numero di soggetti con ipoacusia neurosensoriale identificati e casi di DFNB1 SNHL, percentuale di pazienti che non hanno interrotto l’iter di valutazioni audiologiche (lost to follow up). I centri nascita coinvolti nello studio sono stati Padova, Thiene (VI), Castelfranco Veneto (TV), Abano Terme (PD) and Monselice (PD). Il programma di UNHS in questi ospedali è così organizzato: presso ciascun centro di accoglienza neonatale, il personale paramedico eseguiva lo screening su tutti i neonati mediante le emissioni otocusiche transienti automatiche (A-TEOAEs), coloro che risultano REFER vengono sottoposti al test dei potenziali evocati uditivi del tronco (A-ABR) presso gli ambulatori della Clinica Pediatrica di Padova entro i tre mesi di vita, se questo test conferma il sospetto di un deficit uditivo, attorno al quinto mese di vita, il bambino esegue una valutazione audiologica presso il servizio di Audiologia pediatrica dell’Ospedale di Padova. I casi di ipoacusia identificati vengono inviati al Laboratorio di Malattie Rare della Clinica Pediatrica di Padova per eseguire il test genetico che consiste nel sequenziamento completo di GJB2 e GJB6. Risultati: la copertura in tutti i centri raggiunge circa il 100%. Ogni ospedale ha redatto un protocollo per l’esecuzione del UNHS basandosi sulle linee guida internazionali del JCIH e adattandole alle peculiarità della propria realtà (natalità, personale addetto all’esecuzione di UNHS, livello di terapia intensiva neonatale). La prevalenza di ipoacusia è stata stimata 0,8%. Circa la metà dei soggetti si è sottoposta al test genetico per mutazioni di DFNB1. La percentule di pazienti che non ha seguito l’iter delle valutazioni audiologiche è circa del 30% nella popolazione nata presso la Clinica Pediatrica di Padova e di circa il 46% di coloro che provengono dai centri di Thiene e Castelfranco Veneto Conclusioni: tutti i centri eseguono UNHS secondo le linee guida interazionali di JCIH, la prevalenza di ipoacusia rilevata è nel range di quella riportata in alcuni lavori sulla popolazione italiana. Anche le caratteristiche della perdita uditiva in termini di entità del deficit e bilateralità sono concordi con quanto riportato in letteratura. Per quanto riguarda i soggetti affetti da DFNB1 SNHL, possiamo affermare che, come riportato in numerosi studi vi è variabilità fenotipica per quanto concerne la gravità della perdita. La percentuale di pazienti che interrompono il percorso diagnostico-terapeutico è importante ma minore rispetto a quella rilevata nella realtà americana. L’introduzione dello screening genetico neonatale potrebbe ridurre tale percentuale. Tuttavia, poiché le questioni precedentemente sollevate in merito allo screening genetico di DFNB1 SNHL non hanno ancora ottenuto risposte univoche, prima della sua attuazione, sono necessari ulteriori studi.
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Peterson, Laiken E. "Parental beliefs and attitudes toward false positive newborn screening results for Krabbe disease: A qualitative study." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1554370391330618.
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Scheepers, Lucia Jane. "Why parents refuse newborn hearing screening and default on follow-up rescreening – a South African perspective." Diss., University of Pretoria, 2014. http://hdl.handle.net/2263/46264.
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Li, Shui-fun. "Otoacoustic emissions in universal neonatal hearing screening efficacy of a combined stimuli protocol /." Click to view the E-thesis via HKUTO, 2004. http://sunzi.lib.hku.hk/hkuto/record/B31046083.
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Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.
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Pitts, Stacie A. "Survey of newborn hearing screening and genetic testing practices in states and hospitals in the United States /." Cincinnati, Ohio University of Cincinnati, 2005. http://www.ohiolink.edu/etd/view.cgi?acc%5Fnum=ucin1115987400.
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Cobb, Kimberly Kimiko Farel Anita M. "North Carolina metabolic newborn screening abnormal screen follow-up, physician knowledge & risk for transient neonatal tyrosinemia /." Chapel Hill, N.C. : University of North Carolina at Chapel Hill, 2006. http://dc.lib.unc.edu/u?/etd,287.
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Thesis (Ph. D.)--University of North Carolina at Chapel Hill, 2006.Title from electronic title page (viewed Oct. 10, 2007). "... in partial fulfillment of the requirements for the degree of Doctor of Philosophy in the Department of Maternal and Child Health, School of Public Health." Discipline: Maternal and Child Health; Department/School: Public Health.
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PITTS, STACIE A. "SURVEY OF NEWBORN HEARING SCREENING AND GENETIC TESTING PRACTICES IN STATES AND HOSPITALS IN THE UNITED STATES." University of Cincinnati / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1115987400.
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Sadeghzadeh, Seyedehsaloumeh. "Optimal Data-driven Methods for Subject Classification in Public Health Screening." Diss., Virginia Tech, 2019. http://hdl.handle.net/10919/101611.
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Biomarker testing, wherein the concentration of a biochemical marker is measured to predict the presence or absence of a certain binary characteristic (e.g., a disease) in a subject, is an essential component of public health screening. For many diseases, the concentration of disease-related biomarkers may exhibit a wide range, particularly among the disease positive subjects, in part due to variations caused by external and/or subject-specific factors. Further, a subject's actual biomarker concentration is not directly observable by the decision maker (e.g., the tester), who has access only to the test's measurement of the biomarker concentration, which can be noisy. In this setting, the decision maker needs to determine a classification scheme in order to classify each subject as test negative or test positive. However, the inherent variability in biomarker concentrations and the noisy test measurements can increase the likelihood of subject misclassification.
We develop an optimal data-driven framework, which integrates optimization and data analytics methodologies, for subject classification in disease screening, with the aim of minimizing classification errors. In particular, our framework utilizes data analytics methodologies to estimate the posterior disease risk of each subject, based on both subject-specific and external factors, coupled with robust optimization methodologies to derive an optimal robust subject classification scheme, under uncertainty on actual biomarker concentrations. We establish various key structural properties of optimal classification schemes, show that they are easily implementable, and develop key insights and principles for classification schemes in disease screening.
As one application of our framework, we study newborn screening for cystic fibrosis in the United States. Cystic fibrosis is one of the most common genetic diseases in the United States. Early diagnosis of cystic fibrosis can substantially improve health outcomes, while a delayed diagnosis can result in severe symptoms of the disease, including fatality. We demonstrate our framework on a five-year newborn screening data set from the North Carolina State Laboratory of Public Health. Our study underscores the value of optimization-based approaches to subject classification, and show that substantial reductions in classification error can be achieved through the use of the proposed framework over current practices.Doctor of Philosophy
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Nicholls, Stuart G. "Considering consent : an analysis of factors influencing parental perceptions of decisional quality in the context of newborn screening." Thesis, Lancaster University, 2010. http://eprints.lancs.ac.uk/34959/.
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This thesis explores decision-making and perceptions of decisional quality in parents whose children have undergone newborn bloodspot screening. Newborn bloodspot screening is the programme through which newborn babies are screened for a variety of conditions shortly after birth. In the UK babies are screened for phenylketonuria (PKU), congenital hypothyroidism (CH), sickle cell diseases (SCD), cystic fibrosis (CF) and medium chain acyl-CoA dehydrogenase deficiency (MCADD), with Duchenne muscular dystrophy (DMD) offered as additional screen in Wales. Much has been written about the applicability of consent to newborn bloodspot screening, yet research has tended to revolve around parental knowledge and information provision. These studies say little in terms of actual or perceived decisional quality or whether parents are making an informed choice. Taking an exploratory sequential mixed methods approach, the present study aims to identify and model factors that in fluence parental perceptions of decisional quality within the context of newborn bloodspot screening. The thesis draws on two studies; an exploratory study of parental experiences of newborn bloodspot screening using semi-structured interviews, and a subsequent quantitative phase which analysed data collected through a postal questionnaire. The results of these studies provide significant insights into parental decision-making. Attitudes toward medicine were shown to have a significant causal infl uence on perceived decisional quality through its indirect effect on parental attitudes towards screening. Through the disaggregation of these general and specific attitudes, the significant role of perceived choice is identified. Perceived choice is demonstrated not only to be a significant contributing factor to the perceived quality of decision made, but is also shown to have a strong infl uence on attitudes towards screening through an indirect and positive relationship with perceived knowledge of screening. Both of these elements suggest that the context of screening and its presentation are key determinants of parental decisional quality.
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Mushtaq, Imran. "Newborn screening for cholestatic hepatobiliary disease by the measurement of blood spot bile acids with tandem mass spectrometry." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.391617.
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Nunes, Cristiane Cervelli. "Caracterização dos programas de Triagem Auditiva Neonatal no Brasil." Pontifícia Universidade Católica de São Paulo, 2013. https://tede2.pucsp.br/handle/handle/11974.
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Previous issue date: 2013-10-15To investigate the situation of the newborn Hearing screening in public and private hospital/maternities, where babies delivery are performed in Brazil. The list of hospitals followed the DATASUS information. Method: a digital questionnaire was sent by email, in order to make the survey about the type of hospital, and also about the information concerning if the hospital is performing the screening, financial, approach, methodology and difficulties to implement the hearing screening. The responses were sent to statistical analyses. Results: In Brazil, according to DATASUS, there are 3571 facilities delivering babies. It was sent 1987 (55,6%) emails, which addresses were available. South and Southeast regions were considered the ones with the best net communication available. For 966 hospitals it was possible to confirm the email arrival, but only 69 (7,1%) answered the questionnaire, being 22 of them (31,9%) belonging to Rede Cegonha , a network of hospitals with federal government support to develop delivery best practice actions. Although there is a federal law since 2010, making mandatory the newborn hearing screening, it was noted that a lot of hospitals did not implemented this health care action for the babies. All hospitals responding the survey would like to have a NHS program, except one, because this facility is too small to support such a cost. Conclusions: There was a very low adherence to the present survey from hospitals, limiting the research to 7,1% of the total of hospitals. There is the necessity of partnerships in order to inform most hospitals about protocols, risk indicators, and network established for diagnostic and management of the hearing loss in babies
Realizar um diagnóstico situacional da implantação da Triagem Auditiva Neonatal (TAN) nos hospitais/maternidades, públicas e privadas, que realizam partos no Brasil, e listadas no DATASUS. Método: Através do levantamento de dados por meio de um questionário enviado de forma digital, contendo questões que possibilitaram caracterizar as instituições participantes e colher todas as informações necessárias para o desenvolvimento do estudo, como informação dos hospitais, da triagem auditiva na instituição, abordagem, técnicas e protocolos para, posteriormente, realizar a tabulação e análise das informações colhidas. Resultados No Brasil segundo o DATASUS há 3571 maternidades distribuídas nas cinco regiões geográficas. Em um total de 3571 maternidades, foram enviados 1987 correios eletrônicos totalizando 55,6% das maternidades, sendo que 1584 maternidades, 44,4% não constavam um endereço eletrônico para contato. Pudemos perceber que as regiões sudeste e sul, estão com a rede de comunicação mais organizada do que as outras regiões. Dos 966 hospitais que confirmaram o recebimento da mensagem, apenas 69 (7,1%) responderam o questionário. Destes 69 hospitais que responderam o questionário, 22 (31,9%) são da rede Cegonha. Identificou-se que apesar da Lei Federal nº12.303 de agosto/2010 determinar que todos os neonatos nascidos vivos dentro do território nacional devem, obrigatoriamente, passar pelo exame de emissões otoacústicas evocadas (EOA), identificamos que muitos hospitais não o fazem. Todos os hospitais que não realizam a TAN disseram que gostariam de realizá-la, exceto um hospital público municipal da região Sul, que alegou que o hospital é pequeno e não consegue realizar o serviço. Conclusão: Houve baixa adesão das instituições no preenchimento do questionário eletrônico enviado a visando caracterizar a Triagem Auditiva Neonatal no país. O objetivo de realizar diagnóstico situacional da implantação da Triagem Auditiva Neonatal (TAN) nos hospitais/maternidades, públicas e privadas que realizam partos no Brasil, e listados no DATASUS ficou limitado aos hospitais que enviaram respostas e, portanto parecem representar aqueles preocupados com a implantação e avaliação da TAN. Em um momento político de estabelecimento de diretrizes e regulamentação de sua implantação, parece que há muito a ser feito e parcerias serão necessárias para a implantação, avaliação e formação de rede de acompanhamento dos bebês identificados. Dentre os respondentes, 7,1% do total de questionários enviados, quase metade (45%) dos hospitais não realizam a TAN, mesmo com a determinação da lei federal nº12.303 de 2 de agosto de 2010. No entanto, tiveram interesse em responder ao questionário e explicar seus motivos
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Li, Shui-fun, and 李瑞芬. "Otoacoustic emissions in universal neonatal hearing screening: efficacy of a combined stimuli protocol." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2004. http://hub.hku.hk/bib/B31046083.
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Miller, John H. IV. "A NEW APPROACH TO DRIED BLOOD SPOT ANALYSIS FOR NEWBORN SCREENING USING HIGH RESOLUTION LIQUID CHROMATOGRAPHY TANDEM MASS SPECTROMETRY." VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/2906.
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The primary purpose of newborn screening is to quickly identify children that are at risk of having a specific disorder in order to start treatment, prevent early death and reduce the chances of permanent physical or mental damage. The current and widely accepted approach used for identification of metabolism disorders involves a flow injection analysis with mass spectrometry detection of acylcarnitines and amino acids. Although this approach is widely accepted and has shown to be sufficient for identification of multiple metabolism disorders the method is not fully quantitative and results often have to be confirmed by second-tier tests. The primary focus of this research was to improve the accuracy and selectivity of this screening method by employing a high resolution chromatographic separation for the combined analysis of twelve acylcarnitines and seven amino acids. This method is an improvement over the current methodology allowing for separation of key isomers that are diagnostic for different metabolism disorders, reducing the need for multiple second-tier tests to confirm results and shortening the time to diagnosis. In order to further improve the efficiency of newborn screening we developed an in-line desorption device, which allows for direct analysis of DBS eliminating the need for punching disks from the filter paper cards. Our device was the first published paper that demonstrated the ability to directly analyze dried blood spots, without the need for any offline sample processing. Using this device, we validated a method to quantify biomarkers related to Maple Syrup Urine Disease, a disorder that requires a second-tier test for confirmation. To further improve the accuracy of dried blood spot analysis we evaluated a technique to correct the sample volume in low and high hematocrit samples. The level of hematocrit in blood spotted on filter paper cards affects the volume of sample analyzed, leading to errors in accuracy. Diffuse reflectance was used to relate differences in sample hematocrit on dried blood spots. We validated our technique with eighteen donor samples at various levels of hematocrit. Correcting sample volume for hematocrit showed improved precision and accuracy over the standard approach, ultimately reducing the potential to misidentify samples.
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Swanepoel, Daniël Christiaan De Wet. "Infant hearing screening at maternal and child health clinics in a developing South African community." Pretoria : [s.n.], 2004. http://upetd.up.ac.za/thesis/available/etd-08242005-093303.
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Cara, Barnett Lorraine. "Utilization of Genetics Services in the Diagnosis of Hearing Loss in Newborns in the State of Ohio." The Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1587487734460476.
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Karaceper, Maria D. "The Epidemiology and Health System Impact of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Among Affected Children and Those with False Positive Newborn Screening Results in Ontario, Canada." Thesis, Université d'Ottawa / University of Ottawa, 2014. http://hdl.handle.net/10393/31509.
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Objective: To describe the epidemiology and health system impact of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in Ontario.
Methods: Following a review of methods to estimating robust health event rates for small populations, this study described health services use among infants diagnosed with MCADD or received a false positive newborn screening result for MCADD from April 2006 through March 2010. Each cohort was compared with screen negative infants by linking to databases encompassing physician visits, emergency department care, and hospitalizations.
Results: Relative to comparison birth cohorts, children with MCADD (n=40) experienced significantly higher rates of all health service types, regardless of age at the time of visit; infants with false positive results for MCADD (n=43) experienced significantly higher rates of physician visits and hospitalizations in the first year of life only.
Conclusion: This study makes an important contribution to the limited existing research describing the health system impact of rare diseases.
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Oliveira, LÃvia Ferreira de Melo. "AvaliaÃÃo de serviÃos de triagem auditiva neonatal de Fortaleza, CearÃ." Universidade Federal do CearÃ, 2013. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=10516.
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IntroduÃÃo: Os ServiÃos de Triagem Auditiva Neonatal de Hospitais e Maternidades realizam a triagem dos recÃm-nascidos normais e com risco para deficiÃncia auditiva antes da alta hospitalar. A testagem dos neonatos de UTIN deve incluir obrigatoriamente o PEATE, e tem que haver o monitoramente dos bebÃs com IRDA. A lei federal 12.303/2010 obriga todos os Hospitais e Maternidades da realizarem gratuitamente um dos exames da Triagem Auditiva Neonatal. Neste estudo, objetivou-se avaliar os ServiÃos de Triagem Auditiva Neonatal instalados nos Hospitais e Maternidades pertencentes ao Sistema Ãnico de SaÃde e da rede privada da cidade de Fortaleza, CearÃ. Metodologia: Consistiu em estudo transversal, realizado em duas etapas, identificaÃÃo dos Hospitais/Maternidades que possuem e nÃo possuem STAN e caracterizaÃÃo da Estrutura, Processo e Resultados dos serviÃos. Os locais sem STAN responderam os motivos de nÃo implantaÃÃo do serviÃo, e os locais com STAN responderam questionÃrio sobre Estrutura, Processo e Resultados, cuja avaliaÃÃo foi categorizada em satisfatÃria e insatisfatÃria de acordo com a comparaÃÃo com recomendaÃÃes internacionais. Foi ainda caracterizado um STAN de Hospital de Fortaleza avaliado. Os resultados foram apresentados de forma descritiva, e as variÃveis categÃricas foram testadas atravÃs do qui-quadrado. Resultados: Dos 15 Hospitais/Maternidades de Fortaleza, 33% possuem STAN e 67% nÃo possuem. Entre a rede pÃblica 57% possuem STAN e na rede privada 13% possuem. 90% dos Hospitais/Maternidades que nÃo possuem STAN encaminham os recÃm-nascidos para outros locais e a falta de recursos financeiros (70%) foi motivo mais relatado para nÃo implantaÃÃo do serviÃo. As instituiÃÃes pÃblicas (100%) conhecem a lei 12.303 e 57% das instituiÃÃes privadas nÃo conhecem. SÃo 5 STAN em funcionamento nos Hospitais e Maternidades de Fortaleza, sendo somente 1 na rede privada. O nÃmero de profissionais nos STAN foi 2 (40%) e 1 (40%). O Ãndice de Cobertura variou entre 24 e 99%, tendo uma mÃdia de 63%. A mÃdia do Ãndice de Falha na triagem correspondeu a 20%. Os quesitos da Estrutura avaliados como satisfatÃrios foram: entrega do resultado da triagem (100%), presenÃa do profissional audiologista (100%), presenÃa do pediatra/neonatologista (100%), tecnologia usada na realizaÃÃo do exame (100%), local de realizaÃÃo da triagem (80%), registro do prontuÃrio ou livro de registro (80%), serviÃo de avaliaÃÃo audiolÃgica completa. E os insatisfatÃrios foram: profissional otorrinolaringologista, serviÃo de avaliaÃÃo mÃdica e serviÃo de intervenÃÃo terapÃutica(80%). Os quesitos do Processo avaliados como satisfatÃrios foram: escolha do protocolo da TAN (100%) e realizaÃÃo de reteste na prÃpria instituiÃÃo (80%), enquanto os insatisfatÃrios: seguimento da crianÃa (80%) e protocolo de triagem das crianÃas com permanÃncia em UTIN (60%). Os Ãnicos quesitos dos Resultados dos STAN avaliados como satisfatÃrios foram: Controle mensal das crianÃas que nÃo passaram na primeira triagem (100%) e Ãndice de crianÃas encaminhadas para diagnÃstico audiolÃgico (60%). Os resultados do STAN do Hospital mostrou falha em 43,9% da amostra, maior chance de passar na triagem ao realizar EOAT (p<0,001), maior chance em falhar (60,2%) se a crianÃa tivesse permanecido em UTIN (p<0,001) ou se fosse portadora de IRDA (64,3%), maior chance de apresentar algum encaminhamento (93,6%) se falhar na triagem. ConclusÃo: A lei federal 12.303/2010 nÃo està sendo cumprida na cidade de Fortaleza e apesar dos STAN de Fortaleza apresentarem uma Estrutura satisfatÃria, estÃo ocorrendo Processos e Resultados insatisfatÃrios. Recomenda-se o aprofundamento do tema para a melhoria da qualidade dos ServiÃos de Triagem Auditiva Neonatal de Fortaleza-CE.
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Vitti, Simone Virginia. "Intervenção fonoaudiológica junto à família durante um programa de triagem auditiva neonatal universal." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/25/25143/tde-22062007-111919/.
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A triagem auditiva neonatal universal - TANU - tem sido recomendada no Brasil e no exterior como o principal instrumento para assegurar, nos primeiros anos de vida, o diagnóstico da deficiência auditiva. Nessa medida, o objetivo do presente estudo foi identificar o grau de preocupação e conhecimento a respeito desse procedimento por parte dos familiares, visando contribuir para o planejamento de ações que viabilizem estratégias ainda mais eficazes de orientações fonoaudiológicas. Também foi possível observar o quanto os pais sabem a respeito da audição do bebê, o que pode levar à criação de maneiras mais acolhedoras de acompanhamento e atenção às necessidades reais da família durante o diagnóstico audiológico. Para a pesquisa, foram então selecionadas, inicialmente, 42 famílias, das quais restaram trinta e oito cujos bebês não haviam passado no teste e reteste da TANU, realizados na maternidade Santa Isabel - Bauru/SP, pelo projeto \"Modelo de Saúde Auditiva no Recém-nascido\". A coleta de dados e o registro foram realizados na Clínica de Audiologia Infantil do Departamento de Fonoaudiologia da FOB-USP, Bauru/SP, por meio da aplicação de um instrumento integralmente adaptado, tomando por base dois questionários: o Rhode Island Hearing Screen Program Questionnarie, aplicado em Rhode Island Hearing Assesment Program; e o questionário aplicado por HERGILS; HERGILS17, 2000 na University Hospital, Linköping-Suécia. Foram incluídas, ainda, seis questões pelos juízes que validaram o instrumento. Os resultados foram: houve um aumento significativo do grau de preocupação materna entre o teste e reteste da TANU (p = 0.002); a maior parte das participantes (50%) soube da TANU após a alta hospitalar, 34% durante a internação e 16% antes da internação hospitalar; 55% informaram que não sabiam qual profissional havia realizado a TANU; 100% declararam ser favoráveis ao programa de TANU, sendo que, destas, 53% mostraram-se insatisfeitas com as informações recebidas, tanto sobre os objetivos como sobre as conseqüências da avaliação. O presente estudo confirmou os resultados de outras pesquisas que ressaltam a importância dos programas de Saúde Auditiva no sentido de assegurar que as famílias compreendam a necessidade da TANU, bem como a continuação do diagnóstico audiológico e intervenção precoce, quando necessários.The universal newborn hearing screening - UNHS - has been recommended in Brazil and other foreign countries as the main instrument to assure, in the first years of life, the diagnosis of the auditory deficiency. In this measure, the goal of the current study was to identify the worry and knowledge degrees concerning to this procedure regarding the familiar people, aiming to contribute for the planning of actions that make possible audiologist guidance strategies even more efficient. It was also possible to observe how much the parents know about the baby hearing, and what can be taken to create more welcoming ways of attendance and attention to the real necessities of the family during the audiologist diagnosis. For the research, 42 families were initially selected, for those 38 remained, whose babies did not pass in the UNHS test and retest, which were held at the Maternity Saint Isabel - Bauru/SP, for the project \"Auditory Health Model in the Newborn\". Data and registers collecting were carried through the Audiologist Infantile Clinic of the Therapy Speech-Audiologist Department at FOBUSP, Bauru/SP, over the application of an integrally adapted instrument, based on two questionnaires: the Rhode Island Hearing Screen Program Questionnaire, applied in Rhode Island Hearing Assessment Program; and the questionnaire applied for HERGILS; HERGILS17, 2000 in the University Hospital, Linköping-Sweden. Six questions were included by the judges that validated the instrument. The results showed a significant increase of the maternal concern degree between the UNHS test and retest (p = 0,002); most of the participants (50%) was informed about UNHS procedures after the hospital discharge, 34% during hospital admission and 16% before the hospital admission; 55% informed that they did not know the professional name that performed the UNHS procedures; 100% declared to be for to the UNHS program. From all participants, 53% confirmed unsatisfied with the received information, not only on the objectives but also on the consequences of the evaluation. The recent study confirmed the results of other researches that point out the importance of the Auditory Health programs in order to assure that the families understand the necessity of the UNHS procedures, as well as the continuation of the audiologist diagnosis and previous intervention, when necessary.
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Tutes, Elaine Renata. "Triagem auditiva neonatal universal : a experiência de dois hospitais públicos no município de Campo Grande - MS, no período de janeiro de 2002 a dezembro de 2005 /." Botucatu : [s.n.], 2006. http://hdl.handle.net/11449/96119.
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Orientador: Ercília Maria C. TrezzaBanca: Ercília Maria Carone Trezza
Banca: Lígia Maria Suppo de Souza Rugolo
Banca: Sthella Zanchetta
Resumo: Analisar os resultados iniciais da triagem auditiva neonatal, obtidos na maternidade antes da alta hospitalar, em recém-nascidos de dois hospitais públicos de Campo Grande, MS. Método: estudo de coorte transversal com 20044 recém-nascidos de dois hospitais no período de janeiro de 2002 a dezembro de 2005. Foram utilizadas as Emissões Otoacústicas Evocadas Transientes (EOAETs) e a Pesquisa do Reflexo Cócleo-palpebral (RCP). Os resultados dos testes foram classificados em "passa" e "falha" para as EOAETs e em "presente" ou "ausente" para o RCP. Foram analisados em relação ao(s): local de nascimento, tempo de vida no momento da avaliação, peso ao nascimento, sexo, tipo de parto, valores de Apgar, convênio assistencial e risco para deficiência auditiva segundo o Joint Committee Infant Hearing (JCIH). Resultados: Foram testados 95,96% dos recém-nascidos dos dois hospitais; nesta amostra 87,52% de recém-nascidos foram de baixo risco e 12,48% de alto risco para a deficiência auditiva. Houve predominância de respostas "passa" nas EOAETs para o sexo feminino e para o parto normal. Também foi observada relação de aumento de peso e aumento das respostas "passa". Na população de baixo risco auditivo, conforme aumentava o tempo de vida no momento da avaliação, os resultados de "passa" também aumentavam; já na população de alto risco auditivo esta relação não foi observada. Conclusão: Este programa pode ser considerado como válido de acordo com as recomendações do JCIH.
Abstract: To analyze the initial results of the neonatal hearing sreening, gotten in the maternity before the discharge hospital, in newborns of two public hospitals of Campo Grande, MS. Method: transversal study of coorte with 20044 newborns of two hospitals in the period of January of 2002 the December of 2005. The Transient Evoked Otoacoustic Emissions (TEOAEs) and the cochleo-palpebral refex (CPR) had been used. The results of the tests had been classified in "pass" and "fail" for the TEOAEs and in "present" or "absent" for the CPR . They had been analyzed in relation the: place of birth, time of life at the moment of the evaluation, weight to the birth, sex, type of childbirth, values of Apgar, assistencial accord and risk for hearing impairment according to Joint Committee Infant Hearing (JCIH). Results: 95.96% of the newborns of the two hospitals had been tested; in this sample 87.52% of newborns had been of low risk and 12.48% of high risk for the hearing loss. It had predominance of answers "pass" in the TEOAEs for the feminine sex and the normal childbirth. Also relation of weight increase was observed and increased of the answers "pass". In the population of low auditory risk, as it increased the time of life at the moment of the evaluation, the results "pass" increased; already in the population of high auditory risk this relation was not observed. Conclusion: This program can be considered as valid in accordance with the recommendations of the JCIH.
Mestre
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Bergseng, Håkon. "Aspects of Group B streptococcus(GBS) disease in the newborn : Epidemiology, characterisation of invasive strains and evaluation of intrapartum screening." Doctoral thesis, Norges teknisk-naturvitenskapelige universitet, Institutt for laboratoriemedisin, barne- og kvinnesykdommer, 2009. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-5527.
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Luz, Idalina Marly da. "Triagem auditiva neonatal em uma maternidade pública de Curitiba-PR: fatores determinantes para a não adesão ao reteste." Universidade Tuiuti do Parana, 2014. http://tede.utp.br:8080/jspui/handle/tede/1424.
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INTRODUCTION: This paper has as its theme "Newborn Hearing Screening in a Public Maternity Hospital in Curitiba - PR: Determining Factors for non Adherence to Retesting". According to the 2010 IBGE Census, 5.1% of the population experiences some hearing difficulty. Under Law 12.303/10, it became mandatory to carry out the so-called "Newborn Hearing Test", in newborns before hospital discharge, in order to diagnose possible hearing problems by three months of age. When there is a risk indicator for hearing loss, for the mother or baby, auditory monitoring must be carried out through otoacoustic emissions during the 1st year of the baby’s life. It happens that many mothers do not appear for the hearing retest, thereby undermining the monitoring for these children. OBJECTIVE: To identify the determinants for non-adherence to retesting in neonatal hearing screening at a public hospital in the city of Curitiba-PR for mothers of newborns who presented risk factors for deafness but did not attend retesting. METHOD: 60 mothers of babies who missed the mandatory hearing retest for neonatal hearing screening (NHS) were interviewed. The mother's age, education, marital status, level of knowledge about screening, reasons for non-adherence to retest were the variables considered. The responses were entered into a spreadsheet and submitted to Fischer and Chi-squared tests at a significance level of 0.05. RESULTS: The predominant age range of the mothers was 20-29 years (41.67%); 51.67% were educated only to a primary level, and 46.67% to a high school level. Regarding marital status, 70% of the sample lived alone. All respondents reported that infants listened well, but 63.33% were unaware of the NHS. Among the respondents, 90% received no prenatal guidance or explanatory material about the OAE test; only 20% were targeted during hospitalization; 30% of the sample stated that they "forgot" to do the retest. No significant relationship between age, education and marital status for non-adherence to the retest was found. CONCLUSION: Among the reasons identified for non-adherence to the retest, a large number of participants did not see the needed value in retesting, since the mothers forgot the retest date. This fact allows us to infer that the lack of knowledge about neonatal hearing screening interferes with adherence to the program. However, age, education and marital status did not seem to interfere with the decision to retest and monitor the newborn’s hearing health. The concept of adherence to the retest requires greater analysis by multidisciplinary health professionals. These professionals should be sensitized to the problem because it is their responsibility to make mothers aware of the retest’s importance through knowledge, appreciation and participation in the program. Better communication between health care networks and mothers is needed; conducting informational and motivational campaigns for pregnant women; using standard civil media channels for better orientation about early detection of hearing impairment, since there is little knowledge about the subject.
INTRODUÇÃO: Esta dissertação tem como tema a “Triagem Auditiva Neonatal em uma Maternidade Pública de Curitiba - PR: Fatores Determinantes para a não Adesão ao Reteste”. Segundo o Censo de 2010 do IBGE, 5,1% da população brasileira apresenta alguma dificuldade auditiva. A Lei 12.303/10 tornou obrigatória a realização do denominado “Teste Auditivo Neonatal”, nos recém-nascidos antes da alta hospitalar, para diagnosticar possíveis problemas auditivos até os três meses de idade. Quando houver indicador de risco para deficiência auditiva, na mãe ou no bebê, ele deve realizar o monitoramento auditivo, por meio das emissões otoacústicas, durante o 1º ano de vida. Ocorre que muitas mães não comparecem para o reteste auditivo, o que compromete o seguimento destas crianças. OBJETIVO: Identificar os fatores determinantes para a não adesão ao reteste na triagem auditiva neonatal, em mães de recém-nascidos em maternidade pública da cidade de Curitiba-PR, que apresentaram fatores de risco para surdez e não compareceram ao reteste. MÉTODO: Foram entrevistadas 60 mães de bebês que faltaram ao reteste auditivo obrigatório da triagem auditiva neonatal. Foram consideradas as seguintes variáveis: idade da mãe, escolaridade, estado civil, nível de conhecimento sobre a triagem, motivos que justificaram a não adesão ao reteste. As respostas obtidas foram digitadas em planilha eletrônica e submetidas aos testes estatísticos de Fischer e Qui-quadrado ao nível de significância de 0,05. RESULTADOS: a faixa etária predominante das mães foi de 20 a 29 anos (41,67%); 51,67% apresentaram escolaridade apenas ao nível fundamental e 46,67%, do ensino médio. Quanto ao estado civil, 70% da amostra, viviam sós. Todas as respondentes referiram que os recém-nascidos escutavam bem, mas 63,33% desconheciam a TAN. Dentre as entrevistadas, 90% não receberam orientação no pré-natal, nem material explicativo quanto ao teste da orelhinha; somente 20% foram orientadas durante o internamento; 30% da amostra refere que “esqueceu” a consulta. Não foi encontrada relação significativa entre idade, escolaridade e estado civil para a não adesão ao reteste. CONCLUSÃO: Identificados os motivos para não adesão ao reteste, observa-se que grande parte da amostra não deu o valor necessário ao procedimento de reteste, uma vez que as mães esqueceram a data da consulta. Tal fato permite inferir que a falta de conhecimento sobre a triagem auditiva neonatal interfere na adesão ao programa. Porém, a idade, a escolaridade e o estado civil não parecem interferir sobre a decisão de retornar ao serviço e monitorar o desempenho da saúde auditiva do recém-nascido. O conceito de adesão ao teste requer maior análise multidisciplinar dos profissionais da saúde, que devem estar sensibilizados ao problema, pois lhes cabe a conscientização das mães para que haja conhecimento, valorização e participação no programa. É necessária melhor comunicação entre as redes de assistência à saúde e as mães; a realização de campanhas informativas e motivadoras para gestantes; a utilização dos meios de comunicação da sociedade civil, para orientar melhor quanto à detecção precoce da deficiência auditiva, uma vez que há pouco conhecimento acerca do tema.