How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research

Hdl Handle:
http://hdl.handle.net/10147/323749
Title:
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
Authors:
Leoncini, Emanuele; Botto, Lorenzo D.; Cocchi, Guido; Annerén, Goran; Bower, Carol; Halliday, Jane; Amar, Emmanuelle; Bakker, Marian K.; Bianca, Sebastiano; Canessa Tapia, Maria Aurora; Castilla, Eduardo E.; Csáky-Szunyogh, Melinda; Dastgiri, Saeed; Feldkamp, Marcia L.; Gatt, Miriam; Hirahara, Fumiki; Landau, Danielle; Lowry, R. Brian; Marengo, Lisa; McDonnell, Robert; Mathew, Triphti M.; Morgan, Margery; Mutchinick, Osvaldo M.; Pierini, Anna; Poetzsch, Simone; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Sípek, Antonin; Szabova, Elena; Tagliabue, Giovanna; Vollset, Stein Emil; Wertelecki, Wladimir; Zhuchenko, Ludmila; Mastroiacovo, Pierpaolo
Citation:
Leoncini 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):1670
Journal:
American Journal of Medical Genetics Part A
Issue Date:
Jul-2010
URI:
http://hdl.handle.net/10147/323749
DOI:
10.1002/ajmg.a.33493
Additional Links:
http://doi.wiley.com/10.1002/ajmg.a.33493
Item Type:
Article
Language:
en
Description:
Rates 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.
Keywords:
DOWNS SYNDROME; RESEARCH
ISSN:
15524825; 15524833

Full metadata record

DC FieldValue Language
dc.contributor.authorLeoncini, Emanueleen_GB
dc.contributor.authorBotto, Lorenzo D.en_GB
dc.contributor.authorCocchi, Guidoen_GB
dc.contributor.authorAnnerén, Goranen_GB
dc.contributor.authorBower, Carolen_GB
dc.contributor.authorHalliday, Janeen_GB
dc.contributor.authorAmar, Emmanuelleen_GB
dc.contributor.authorBakker, Marian K.en_GB
dc.contributor.authorBianca, Sebastianoen_GB
dc.contributor.authorCanessa Tapia, Maria Auroraen_GB
dc.contributor.authorCastilla, Eduardo E.en_GB
dc.contributor.authorCsáky-Szunyogh, Melindaen_GB
dc.contributor.authorDastgiri, Saeeden_GB
dc.contributor.authorFeldkamp, Marcia L.en_GB
dc.contributor.authorGatt, Miriamen_GB
dc.contributor.authorHirahara, Fumikien_GB
dc.contributor.authorLandau, Danielleen_GB
dc.contributor.authorLowry, R. Brianen_GB
dc.contributor.authorMarengo, Lisaen_GB
dc.contributor.authorMcDonnell, Roberten_GB
dc.contributor.authorMathew, Triphti M.en_GB
dc.contributor.authorMorgan, Margeryen_GB
dc.contributor.authorMutchinick, Osvaldo M.en_GB
dc.contributor.authorPierini, Annaen_GB
dc.contributor.authorPoetzsch, Simoneen_GB
dc.contributor.authorRitvanen, Annukkaen_GB
dc.contributor.authorScarano, Gioacchinoen_GB
dc.contributor.authorSiffel, Csabaen_GB
dc.contributor.authorSípek, Antoninen_GB
dc.contributor.authorSzabova, Elenaen_GB
dc.contributor.authorTagliabue, Giovannaen_GB
dc.contributor.authorVollset, Stein Emilen_GB
dc.contributor.authorWertelecki, Wladimiren_GB
dc.contributor.authorZhuchenko, Ludmilaen_GB
dc.contributor.authorMastroiacovo, Pierpaoloen_GB
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
All Items in Lenus, The Irish Health Repository are protected by copyright, with all rights reserved, unless otherwise indicated.