Talk:Guthrie test
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Cite this page: Hill, M.A. (2024, June 23) Embryology Guthrie test. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Guthrie_test |
2012
Evaluation of current guthrie TSH cut-off point in Iran congenital hypothyroidism screening program: a cost-effectiveness analysis
Arch Iran Med. 2012 Mar;15(3):136-41.
Shamshiri AR, Yarahmadi S, Forouzanfar MH, Haghdoost AA, Hamzehloo G, Holakouie Naieni K. Source Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran. Abstract BACKGROUND: The threshold of thyroid-stimulating hormone (TSH) in current screening for congenital hypothyroidism (CH) from the heel prick test is 5 mU/l. This study uses cost-effective analysis to evaluate increasing the threshold to minimize false-positive results and recall rates. METHODS: Cost of screening, diagnosis and treatment, education, and care of mentally retarded patients were gathered from the Ministry of Health State Welfare Organization and Department of Education in Tehran. Screening data were obtained from 34,007 neonates in the Central Health Laboratory of Tehran University of Medical Sciences in 2009. Sensitivity analysis and calculation of confidence interval for incremental costs and effects (gained disability adjusted life years - DALYs) and incremental cost-effectiveness ratios (ICER) were performed by Monte Carlo simulation with Ersatz software. RESULTS: ICER for screening programs with different TSH cut-off points versus no screening was similar, and approximately -4.5 ± 0.2 thousand US dollars per gained DALY. In the proposed cohort (10,000 neonates), gained DALYs were 316 ± 50 for a cut off point of 5 mU/l, 251 ± 40 for 10 mU/l, 146 ± 23 for 15 mU/l, and 113 ± 18 for a cut-off point of 20 mU/l. Sensitivity analysis showed that the model remained the same when the input parameters were changed. CONCLUSION: This study demonstrates that the current threshold of TSH in the national CH screening program in terms of cost-effectiveness is the most appropriate threshold. However, more studies are needed to examine new strategies and methods to reduce recall rates and related consequences such as repeated thyroid testing in neonates.
PMID 22369300
2011
Feasibility of neonatal dried blood spot retrieval amid evolving state policies (2009-2010): a Children's Oncology Group study
Paediatr Perinat Epidemiol. 2011 Nov;25(6):549-58. doi: 10.1111/j.1365-3016.2011.01228.x. Epub 2011 Aug 10.
Linabery AM, Slater ME, Spector LG, Olshan AF, Stork SK, Roesler MA, Reaman GH, Ross JA. Source Division of Pediatric Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, 55455, USA.
Abstract
Dried blood spots (DBS) are collected uniformly from US newborns to test for metabolic and other disorders. Because evidence exists for prenatal origins of some diseases, DBS may provide unique prenatal exposure records. Some states retain residual DBS and permit their use in aetiological studies. The primary study aim was to assess the feasibility of obtaining residual DBS from state newborn screening programmes for paediatric and adolescent cancer patients nationwide with parental/subject consent/assent. Families of leukaemia and lymphoma patients aged ≤21 years diagnosed from 1998 to 2007 at randomly selected Children's Oncology Group institutions across the US were questioned (n = 947). Parents/guardians and patients aged ≥18 years were asked to release DBS to investigators in spring 2009. DBS were then requested from states. Overall, 299 families (32%) released DBS. Consenting/assenting patients were born in 39 US states and 46 DBS were obtained from five states; 124 DBS were unobtainable because patients were born prior to dates of state retention. State policies are rapidly evolving and there is ongoing discussion regarding DBS storage and secondary research uses. Currently, population-based DBS studies can be conducted in a limited number of states; fortunately, many have large populations to provide reasonably sized paediatric subject groups. © 2011 Blackwell Publishing Ltd.
PMID 21980944
Fabry disease
(Fabry disease, Fabry's disease, Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum, Ceramide trihexosidosis, Ruiter-Pompen-Wyers syndrome, Sweeley-Klionsky disease) Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease.
