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

Emanuele Leoncini, Lorenzo D. Botto, Guido Cocchi, Goran Annerén, Carol Bower, Jane Halliday, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Maria Aurora Canessa Tapia, Eduardo E. Castilla, Melinda Csáky-Szunyogh, Saeed Dastgiri, Marcia L. Feldkamp, Miriam Gatt, Fumiki Hirahara, Danielle Landau, R. Brian Lowry, Lisa Marengo, Robert McDonnell & 15 others Triphti M. Mathew, Margery Morgan, Osvaldo M. Mutchinick, Anna Pierini, Simone Poetzsch, Annukka Ritvanen, Gioacchino Scarano, Csaba Siffel, Antonin Sípek, Elena Szabova, Giovanna Tagliabue, Stein Emil Vollset, Wladimir Wertelecki, Ludmila Zhuchenko, Pierpaolo Mastroiacovo

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 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

Original languageEnglish
Pages (from-to)1670-1680
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number7
DOIs
Publication statusPublished - Jul 2010

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Down Syndrome
Maternal Age
Research
Parturition
Pregnancy
Confidence Intervals

Keywords

  • Down syndrome
  • Epidemiology
  • Prevalence
  • Registries
  • Validity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

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

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 7, 07.2010, p. 1670-1680.

Research output: Contribution to journalArticle

Leoncini, E, Botto, LD, Cocchi, G, Annerén, G, Bower, C, Halliday, J, Amar, E, Bakker, MK, Bianca, S, Canessa Tapia, MA, Castilla, EE, Csáky-Szunyogh, 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', American Journal of Medical Genetics, Part A, vol. 152, no. 7, pp. 1670-1680. https://doi.org/10.1002/ajmg.a.33493
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. / How valid are the rates of down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 7. pp. 1670-1680.
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AU - Bower, Carol

AU - Halliday, Jane

AU - Amar, Emmanuelle

AU - Bakker, Marian K.

AU - Bianca, Sebastiano

AU - Canessa Tapia, Maria Aurora

AU - Castilla, Eduardo E.

AU - Csáky-Szunyogh, Melinda

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AU - Szabova, Elena

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