Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 22 for “"Newborn Screening"”.
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Cytomegalovirus Among Women Of Reproductive Age: Newborn Screening Acceptability, Seroprevalence, And Viral Shedding
… infection in the U.S. Approximately 0.5-0.7% of newborns are infected with CMV in utero, translating to about 22,800 infants infected each year. This dissertation focused on women of reproductive age, considered here to be 18-44 years, as this is the population who may make decisions regarding …
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Nutrition Support and Newborn Screening in the NICU Population: Is There a Link?
… 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 …
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Expansion of the New York State Newborn Screening Panel and Krabbe Disease: A Systematic Program Evaluation
… formal program evaluation of the New York State newborn screening for Krabbe disease (KD), a rare neurological disease with variable onset of symptoms to assess 1) the perceptions of stakeholders 2) KD test characteristics, and 3) actual program costs. Using the CDC Framework for Program …
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Considering consent : an analysis of factors influencing parental perceptions of decisional quality in the context of newborn screening
… 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 …
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BRIDGING CLINICAL, METABOLIC, AND NUTRITIONAL FINDINGS IN MOTHER¿INFANT DYADS WITH MATERNAL VITAMIN B12 DEFICIENCY IDENTIFIED THROUGH NEWBORN SCREENING
… deficiency during pregnancy directly affects the newborn and can be detected through Expanded Newborn Screening (ENS), which enables the identification of maternal deficiency by detecting elevated biomarkers of B12 metabolism. In this thesis, a prospective observational study was conducted at the …
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The Use of Liquid Chromatography Tandem Mass Spectrometry to Improve Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
Newborn screening for congenital adrenal hyperplasia (CAH) prevents the severe clinical complications that can occur in babies with the condition in the first few weeks after birth. The screening test is the measurement of 17-hydroxyprogesterone (17OHP) by immunoassay in dried blood specimens …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… has lead to the recent expansion of the newborn screening panel to include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for …
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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
… 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 …
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The epidemiology of congenital hypothyroidism in the United Arab Emirates
The newborn screening for congenital hypothyroidism (CR) started in the West in the sixties. The guidelines for screening were introduced in the majority of western countries some 30 years ago and were adapted in 1997 by the World Health Organization. The United Arab Emirates (UAE) started newborn …
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Robust and Equitable Public Health Screening Strategies, with Application to Genetic and Infectious Diseases
Public health screening plays an important role in the overall healthcare system. As an example, consider newborn screening, a state-level initiative that screens newborns for life-threatening genetic disorders for which early treatment can substantially improve health outcomes. Another topical …
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Optimal Data-driven Methods for Subject Classification in Public Health Screening
… 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 …
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Sindromi drepanocitiche: studio di fattibilità di strategie di prevenzione e rimodellamento della rete assistenziale in un contesto in evoluzione
… to evaluate the feasibility of neonatal screening and to propose a realistic healthcare program. METHODS: The estimate of the SCD prevalence changes between January 1978 and December 2011 in the Piedmont region was based on three regional data sources. All consecutive patients with SCD …
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Development of a Field-Use Paper-Based PKU Test Using Colorimetric Readout
Current newborn screening programs for phenylketonuria (PKU) do not reach many individuals, worldwide, who would benefit from testing. Existing PKU tests require a high-resource laboratory, as well as a base level of local infrastructure, which prohibits their use in low-resource settings. In this …
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Isothermal Nucleic Acid Assays for the Detection of HIV Drug Resistance and Sickle Cell Disease in Low-Resource Settings
… in the β-globin gene. Early diagnosis through newborn screening is known to reduce mortality; however, the high cost and complexity of conventional diagnostic methods limit the scope and sustainability of newborn screening for SCD in resource-limited areas worldwide. Although several …
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Determination of reference intervals and decision limits for thyroid stimulating hormone and thyroxine on cord blood samples
… with severe consequences if left untreated. Newborn screening (NBS) programs play a pivotal role in early detection and intervention of CH. However, due to resource constraints, South Africa lacks a national NBS program. This study aimed to establish reference intervals for thyroid …
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Sudden unexpected death in infants: a forensic genetic investigation in a South African cohort
… is locally relevant. It is evident that until newborn screening becomes routine and accessible in South Africa, molecular autopsies should include testing for inherited metabolic disorders, as it holds potential to save lives.
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
… rare as we think. Genetic characterization and newborn screening for primary Immunodeficiency diseases (PIDs) may be the gold standard in the first world setting but are neither practical nor feasible for our doctors. Yet, other low and middle income countries in the world have also established …
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A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children's Hospital, Cape Town, South Africa, 1975 – 2017
… rare as we think. Genetic characterization and newborn screening for primary Immunodeficiency diseases (PIDs) may be the gold standard in the first world setting but are neither practical nor feasible for our doctors. Yet, other low and middle income countries in the world have also established …
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The social meanings of a child with sickle cell disease in Ghana: Fathers' reactions and perspectives.
… Ghana, where 2% of all babies born have SCD, the newborn screening programme has a survival to five years old of over 95%. Extensive information is available on the clinical aspects of SCD, but there is limited documentation on its social aspects. Existing literature on SCD is focussed on the US …
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Déploiement et évaluation d’une offre de test de dépistage néonatal pour le rachitisme vitamino-dépendant de type 1A
… and Charlevoix regions to develop a neonatal screening test and program. The test was developed and validated according to clinical standards and implemented in the SLSJ hospitals. This two-year project allowed to confirm the effectiveness of the test and to evaluate the acceptability of the …
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