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dc.contributor.authorLeoncini, Emanuele
dc.contributor.authorBotto, Lorenzo D.
dc.contributor.authorCocchi, Guido
dc.contributor.authorAnnerén, Goran
dc.contributor.authorBower, Carol
dc.contributor.authorHalliday, Jane
dc.contributor.authorAmar, Emmanuelle
dc.contributor.authorBakker, Marian K.
dc.contributor.authorBianca, Sebastiano
dc.contributor.authorCanessa Tapia, Maria Aurora
dc.contributor.authorCastilla, Eduardo E.
dc.contributor.authorCsáky-Szunyogh, Melinda
dc.contributor.authorDastgiri, Saeed
dc.contributor.authorFeldkamp, Marcia L.
dc.contributor.authorGatt, Miriam
dc.contributor.authorHirahara, Fumiki
dc.contributor.authorLandau, Danielle
dc.contributor.authorLowry, R. Brian
dc.contributor.authorMarengo, Lisa
dc.contributor.authorMcDonnell, Robert
dc.contributor.authorMathew, Triphti M.
dc.contributor.authorMorgan, Margery
dc.contributor.authorMutchinick, Osvaldo M.
dc.contributor.authorPierini, Anna
dc.contributor.authorPoetzsch, Simone
dc.contributor.authorRitvanen, Annukka
dc.contributor.authorScarano, Gioacchino
dc.contributor.authorSiffel, Csaba
dc.contributor.authorSípek, Antonin
dc.contributor.authorSzabova, Elena
dc.contributor.authorTagliabue, Giovanna
dc.contributor.authorVollset, Stein Emil
dc.contributor.authorWertelecki, Wladimir
dc.contributor.authorZhuchenko, Ludmila
dc.contributor.authorMastroiacovo, Pierpaolo
dc.date.accessioned2014-07-24T14:16:24Z
dc.date.available2014-07-24T14:16:24Z
dc.date.issued2010-07
dc.identifier.citationLeoncini E et al. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Gen Part A 2010, 152A (7):1670en_GB
dc.identifier.issn15524825
dc.identifier.issn15524833
dc.identifier.doi10.1002/ajmg.a.33493
dc.identifier.urihttp://hdl.handle.net/10147/323749
dc.descriptionRates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking. The goal of this study was to develop and test a method to assess the validity of DS rates in surveillance programs, as an indicator of quality of ascertainment. The proposed method compares the observed number of cases with DS (livebirths plus elective pregnancy terminations, adjusted for spontaneous fetal losses that would have occurred if the pregnancy had been allowed to continue) in each single year of maternal age, with the expected number of cases based on the best-published data on rates by year of maternal age. To test this method we used data from birth years 2000 to 2005 from 32 surveillance programs of the International Clearinghouse for Birth Defects Surveillance and Research. We computed the adjusted observed versus expected ratio (aOE) of DS birth prevalence among women 25-44 years old. The aOE ratio was close to unity in 13 programs (the 95% confidence interval included 1), above 1 in 2 programs and below 1 in 18 programs (P < 0.05). These findings suggest that DS rates internationally can be evaluated simply and systematically, and underscores how adjusting for spontaneous fetal loss is crucial and feasible. The aOE ratio can help better interpret and compare the reported rates, measure the degree of under- or over-registration, and promote quality improvement in surveillance programs that will ultimately provide better data for research, service planning, and public health programs.en_GB
dc.language.isoenen
dc.relation.urlhttp://doi.wiley.com/10.1002/ajmg.a.33493en_GB
dc.rightsArchived with thanks to American Journal of Medical Genetics Part Aen_GB
dc.subjectDOWNS SYNDROMEen_GB
dc.subjectRESEARCHen_GB
dc.titleHow valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Researchen_GB
dc.typeArticleen
dc.identifier.journalAmerican Journal of Medical Genetics Part Aen_GB


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