http://www.cnr.it/ontology/cnr/individuo/prodotto/ID24380

How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research (Articolo in rivista) (literal)

Anno

2010-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1002/ajmg.a.33493 (literal)

Alternative label

Emanuele Leoncini,1 Lorenzo D. Botto,2 Guido Cocchi,3 Goran Anner?en,4,5 Carol Bower,6 Jane Halliday,7 Emmanuelle Amar,8 Marian K. Bakker,9 Sebastiano Bianca,10 Maria Aurora Canessa Tapia,11 Eduardo E. Castilla,12,13 Melinda Csàky-Szunyogh,14 Saeed Dastgiri,15 Marcia L. Feldkamp,2 Miriam Gatt,16 Fumiki Hirahara,17 Danielle Landau,18 R. Brian Lowry,19 Lisa Marengo,20 Robert McDonnell,21 Triphti M. Mathew,22 Margery Morgan,23 Osvaldo M. Mutchinick,24 Anna Pierini,25 Simone Poetzsch,26 Annukka Ritvanen,27 Gioacchino Scarano,28 Csaba Siffel,29 Antonin S??pek,30 Elena Szabova,31 Giovanna Tagliabue,32 Stein Emil Vollset,33 Wladimir Wertelecki,34 Ludmila Zhuchenko,35 and Pierpaolo Mastroiacovo1 (2010)
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; WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Emanuele Leoncini,1 Lorenzo D. Botto,2 Guido Cocchi,3 Goran Anner?en,4,5 Carol Bower,6 Jane Halliday,7 Emmanuelle Amar,8 Marian K. Bakker,9 Sebastiano Bianca,10 Maria Aurora Canessa Tapia,11 Eduardo E. Castilla,12,13 Melinda Csàky-Szunyogh,14 Saeed Dastgiri,15 Marcia L. Feldkamp,2 Miriam Gatt,16 Fumiki Hirahara,17 Danielle Landau,18 R. Brian Lowry,19 Lisa Marengo,20 Robert McDonnell,21 Triphti M. Mathew,22 Margery Morgan,23 Osvaldo M. Mutchinick,24 Anna Pierini,25 Simone Poetzsch,26 Annukka Ritvanen,27 Gioacchino Scarano,28 Csaba Siffel,29 Antonin S??pek,30 Elena Szabova,31 Giovanna Tagliabue,32 Stein Emil Vollset,33 Wladimir Wertelecki,34 Ludmila Zhuchenko,35 and Pierpaolo Mastroiacovo1 (literal)

Pagina inizio

1670 (literal)

Pagina fine

1680 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33493/pdf (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

152A (literal)

Rivista

American journal of medical genetics. Part A (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

In: American Journal of Medical Genetics Part A, vol. 152A (7) pp. 1670 - 1680. Wiley-Liss, Inc, 2010. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

11 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

7 (literal)

Note

PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

1Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Roma, Italy; 2Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah; 3Istituto Clinico di Pediatria Preventiva e Neonatologia, Università di Bologna, Bologna, Italy; 4Departments of Genetics and Pathology, Uppsala University, Uppsala, Sweden; 5The Swedish Birth Defects Registry, Stockholm, Sweden; 6Western Australia Birth Defects Registry, Perth, Australia; 7Victoria Birth Defects Registry, Melbourne, Australia; 8Registre des Malformations en Rhone Alpes (REMERA), Facult?e Laennec, Lyon, France; 9Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands; 10Sicilian Registry of Congenital Malformations (ISMAC), Genetica Medica--Dipartimento Materno Infantile ARNAS Garibaldi Nesima, Catania,Italy; 11Regional Register Congenital Malformation Maule Health Service (RRMC-SSM), Linares, Chile; 12INAGEMP, and ECLAMC at CEMIC, Argentina; 13Instituto Oswaldo Cruz, Brazil; 14Hungarian Congenital Abnormality Registry (HCAR), Budapest, Hungary; 15Tabriz Registry of Congenital Anomalies (TRoCA) and National Public Health Management Centre (NPMC), Tabriz University of Medical Sciences,Tabriz, Iran; 16Malta Congenital Anomalies Registry, Department of Health Information and Research, Guardamangia, Malta; 17Department of Obstetrics, Gynecology and Molecular Reproductive Science, Yokohama City University School of Medicine, Yokohama, Japan; 18Israel Birth Defects Surveillance Program (IBDSP), Beer-Sheva, Israel; 19Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Department of Clinical Genetics, Alberta Children's Hospital,Calgary, AB, Canada; 20Texas Department of State Health Services, Birth Defects Epidemiology and Surveillance Branch, Austin, Texas; 21Dublin EUROCAT Registry, Health Service Executive, Dublin, Ireland. (literal)

Titolo

How Valid Are the Rates of Down Syndrome Internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research (literal)

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 (P0.05). 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. TheaOEratio 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. ?2010 Wiley-Liss, Inc. (literal)

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