Back to Search Start Over

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and ResearchHow to Cite this Article: Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, CsákySzunyogh M, Dastgiri S, Feldkamp ML, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, McDonnell R, Mathew TM, Morgan M, Mutchinick OM, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sípek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P. 2010. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet Part A 152A:1670–1680.

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and ResearchHow to Cite this Article: Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, Castilla EE, CsákySzunyogh M, Dastgiri S, Feldkamp ML, Gatt M, Hirahara F, Landau D, Lowry RB, Marengo L, McDonnell R, Mathew TM, Morgan M, Mutchinick OM, Pierini A, Poetzsch S, Ritvanen A, Scarano G, Siffel C, Sípek A, Szabova E, Tagliabue G, Vollset SE, Wertelecki W, Zhuchenko L, Mastroiacovo P. 2010. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet Part A 152A:1670–1680.

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.
CsákySzunyogh, 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
Source :
American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1670-1680, 11p
Publication Year :
2010

Abstract

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 bestpublished 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 overregistration, and promote quality improvement in surveillance programs that will ultimately provide better data for research, service planning, and public health programs. © 2010 WileyLiss, Inc.

Details

Language :
English
ISSN :
15524825 and 15524833
Volume :
152
Issue :
7
Database :
Supplemental Index
Journal :
American Journal of Medical Genetics. Part A
Publication Type :
Periodical
Accession number :
ejs21714909
Full Text :
https://doi.org/10.1002/ajmg.a.33493