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dc.contributor.author
Castilla, Eduardo Enrique
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dc.contributor.author
Mastroiacovo, Pierpaolo
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dc.date.available
2023-04-04T15:20:21Z
dc.date.issued
2011-07
dc.identifier.citation
Castilla, Eduardo Enrique; Mastroiacovo, Pierpaolo; Very rare defects: What can we learn?; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 7-2011; 252-261
dc.identifier.issn
1552-4868
dc.identifier.uri
http://hdl.handle.net/11336/192690
dc.description.abstract
The International Clearinghouse for Birth Defects Surveillance and Research conducted a study on very rare defects (VRDs) to test methodologies in their population surveillance and to increase the knowledge of their epidemiology. Eight VRDs: acardia (AC), amelia (AM), bladder exstrophy (BE), cloaca exstrophy (CE), conjoined twins (CT), cyclopia (CY), "true" phocomelia (PH), and sirenomelia (SI) were selected, all of whom showed prevalences in the order of 1/100,000 births, except for BE: 1/48,000 births. Materials in this investigation from 25 million pregnancy outcomes, were provided by 22 Clearinghouse-member programs. The study protocol provided a working definition, a summary of the phenotypic characteristic, and a list of ICD-9 and ICD-10 codes for each VRDs. Learned lessons include: (1) The suspected associations of decreasing risk with advancing maternal age in AM and SI, and increasing risk in BE, and increasing frequency of twins in SI, were confirmed. (2) Morphologically similar defects showed dissimilar epidemiological characteristics, namely, AM and PH, and BE and CE. (3) Heterogeneity in total prevalences for most VRDs among different surveillance programs were attributed to operational reasons, except for SI and CT in which Amerindian ethnicity seems to be associated with higher prevalence. (4) Verbatim description is essential and must be stored in electronic files. In addition to codes. (5) Dysmorphologists or clinical geneticists are an essential part of the coordinating team of the surveillance program. (6) ICD coding system is insufficient. (7) Surveillance programs should be a valuable source of information on exposures to risk factors during pregnancy.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, div John Wiley & Sons Inc.
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CLEARINGHOUSE
dc.subject
ICBDSR
dc.subject
RARE ANOMALIES
dc.subject
RARE CONGENITAL ANOMALIES
dc.subject
RARE DEFECTS
dc.subject.classification
Epidemiología
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dc.subject.classification
Ciencias de la Salud
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Very rare defects: What can we learn?
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-04-04T12:06:42Z
dc.journal.volume
157
dc.journal.number
4
dc.journal.pagination
252-261
dc.journal.pais
Estados Unidos
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dc.journal.ciudad
Nueva York
dc.description.fil
Fil: Castilla, Eduardo Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina. Instituto Nacional de Genética Médica Populacional; Brasil. Centre of the International Clearinghouse for Birth Defects Surveillance and Research; Italia
dc.description.fil
Fil: Mastroiacovo, Pierpaolo. Centre of the International Clearinghouse for Birth Defects and Research ; Italia
dc.journal.title
American Journal Of Medical Genetics Part C-seminars In Medical Genetics
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.30315
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/ajmg.c.30315
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