Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations

Hdl Handle:
http://hdl.handle.net/10147/324070
Title:
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations
Authors:
Leoncini, Emanuele; Baranello, Giovanni; Orioli, Iêda M.; Annerén, Göran; Bakker, Marian; Bianchi, Fabrizio; Bower, Carol; Canfield, Mark A.; Castilla, Eduardo E.; Cocchi, Guido; Correa, Adolfo; De Vigan, Catherine; Doray, Berenice; Feldkamp, Marcia L.; Gatt, Miriam; Irgens, Lorentz M.; Lowry, R. Brian; Maraschini, Alice; Mc Donnell, Robert; Morgan, Margery; Mutchinick, Osvaldo; Poetzsch, Simone; Riley, Merilyn; Ritvanen, Annukka; Gnansia, Elisabeth Robert; Scarano, Gioacchino; Sipek, Antonin; Tenconi, Romano; Mastroiacovo, Pierpaolo
Citation:
Leoncini E et al. Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations 2008, 82 (8):585 Birth Defects Research Part A: Clinical and Molecular Teratology
Journal:
Birth Defects Research Part A: Clinical and Molecular Teratology
Issue Date:
Aug-2008
URI:
http://hdl.handle.net/10147/324070
DOI:
10.1002/bdra.20479
Additional Links:
http://doi.wiley.com/10.1002/bdra.20479
Item Type:
Article
Language:
en
Description:
BACKGROUND: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses.
Keywords:
CHILD DEVELOPMENT
Local subject classification:
BIRTH DEFECTS
ISSN:
15420752; 15420760

Full metadata record

DC FieldValue Language
dc.contributor.authorLeoncini, Emanueleen_GB
dc.contributor.authorBaranello, Giovannien_GB
dc.contributor.authorOrioli, Iêda M.en_GB
dc.contributor.authorAnnerén, Göranen_GB
dc.contributor.authorBakker, Marianen_GB
dc.contributor.authorBianchi, Fabrizioen_GB
dc.contributor.authorBower, Carolen_GB
dc.contributor.authorCanfield, Mark A.en_GB
dc.contributor.authorCastilla, Eduardo E.en_GB
dc.contributor.authorCocchi, Guidoen_GB
dc.contributor.authorCorrea, Adolfoen_GB
dc.contributor.authorDe Vigan, Catherineen_GB
dc.contributor.authorDoray, Bereniceen_GB
dc.contributor.authorFeldkamp, Marcia L.en_GB
dc.contributor.authorGatt, Miriamen_GB
dc.contributor.authorIrgens, Lorentz M.en_GB
dc.contributor.authorLowry, R. Brianen_GB
dc.contributor.authorMaraschini, Aliceen_GB
dc.contributor.authorMc Donnell, Roberten_GB
dc.contributor.authorMorgan, Margeryen_GB
dc.contributor.authorMutchinick, Osvaldoen_GB
dc.contributor.authorPoetzsch, Simoneen_GB
dc.contributor.authorRiley, Merilynen_GB
dc.contributor.authorRitvanen, Annukkaen_GB
dc.contributor.authorGnansia, Elisabeth Roberten_GB
dc.contributor.authorScarano, Gioacchinoen_GB
dc.contributor.authorSipek, Antoninen_GB
dc.contributor.authorTenconi, Romanoen_GB
dc.contributor.authorMastroiacovo, Pierpaoloen_GB
dc.date.accessioned2014-08-01T11:02:10Z-
dc.date.available2014-08-01T11:02:10Z-
dc.date.issued2008-08-
dc.identifier.citationLeoncini E et al. Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variations 2008, 82 (8):585 Birth Defects Research Part A: Clinical and Molecular Teratologyen_GB
dc.identifier.issn15420752-
dc.identifier.issn15420760-
dc.identifier.doi10.1002/bdra.20479-
dc.identifier.urihttp://hdl.handle.net/10147/324070-
dc.descriptionBACKGROUND: Holoprosencephaly (HPE) is a developmental field defect of the brain that results in incomplete separation of the cerebral hemispheres that includes less severe phenotypes, such as arhinencephaly and single median maxillary central incisor. Information on the epidemiology of HPE is limited, both because few population-based studies have been reported, and because small studies must observe a greater number of years in order to accumulate sufficient numbers of births for a reliable estimate. METHODS: We collected data from 2000 through 2004 from 24 of the 46 Birth Defects Registry Members of the International Clearinghouse for Birth Defects Surveillance and Research. This study is based on more than 7 million births in various areas from North and South America, Europe, and Australia. RESULTS: A total of 963 HPE cases were registered, yielding an overall prevalence of 1.31 per 10,000 births. Because the estimate was heterogeneous, possible causes of variations among populations were analyzed: random variation, under-reporting and over-reporting bias, variation in proportion of termination of pregnancies among all registered cases and real differences among populations. CONCLUSIONS: The data do not suggest large differences in total prevalence of HPE among the studied populations that would be useful to generate etiological hypotheses.en_GB
dc.language.isoenen
dc.relation.urlhttp://doi.wiley.com/10.1002/bdra.20479en_GB
dc.rightsArchived with thanks to Birth Defects Research Part A: Clinical and Molecular Teratologyen_GB
dc.subjectCHILD DEVELOPMENTen_GB
dc.subject.otherBIRTH DEFECTSen_GB
dc.titleFrequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: Searching for population variationsen_GB
dc.typeArticleen
dc.identifier.journalBirth Defects Research Part A: Clinical and Molecular Teratologyen_GB
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