Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects

Autores
Campaña, Hebe; Rittler, Monica; Poletta, Fernando Adrián; Gili, Juan Antonio; Pawluk, Mariela Soledad; Scala, Sandra Constanza; Camelo, Jorge Santiago López
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs). Objectives To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs. Study Design Information of newborns with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations) database. The sample consisted of 27,247 live- and stillborn newborns with multiple malformations that included at least one of the selected MDs or mAs. The odds ratio and predictive values were calculated for significant associations, and concurrence rates in first degree relatives. Results A total of 33 significant minor–major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with 10 MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Newborns with preauricular tags had significantly more relatives with microtia than expected. Conclusions No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same newborn. However, preauricular tags can predict the occurrence of microtia in other family members.
Fil: Campaña, Hebe. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Rittler, Monica. Universidad de Buenos Aires; Argentina
Fil: Poletta, Fernando Adrián. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; Argentina
Fil: Gili, Juan Antonio. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; Argentina
Fil: Pawluk, Mariela Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Scala, Sandra Constanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Camelo, Jorge Santiago López. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; Argentina
Materia
Epidemiology
minor anomalies
predictors
birth defects
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/103840
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth DefectsCampaña, HebeRittler, MonicaPoletta, Fernando AdriánGili, Juan AntonioPawluk, Mariela SoledadScala, Sandra ConstanzaCamelo, Jorge Santiago LópezEpidemiologyminor anomaliespredictorsbirth defectshttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Background Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs). Objectives To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs. Study Design Information of newborns with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations) database. The sample consisted of 27,247 live- and stillborn newborns with multiple malformations that included at least one of the selected MDs or mAs. The odds ratio and predictive values were calculated for significant associations, and concurrence rates in first degree relatives. Results A total of 33 significant minor–major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with 10 MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Newborns with preauricular tags had significantly more relatives with microtia than expected. Conclusions No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same newborn. However, preauricular tags can predict the occurrence of microtia in other family members.Fil: Campaña, Hebe. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Rittler, Monica. Universidad de Buenos Aires; ArgentinaFil: Poletta, Fernando Adrián. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; ArgentinaFil: Gili, Juan Antonio. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; ArgentinaFil: Pawluk, Mariela Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Scala, Sandra Constanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; ArgentinaFil: Camelo, Jorge Santiago López. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; ArgentinaThieme Medical Publ Inc2013-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/103840Campaña, Hebe; Rittler, Monica; Poletta, Fernando Adrián; Gili, Juan Antonio; Pawluk, Mariela Soledad; et al.; Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects; Thieme Medical Publ Inc; American Journal of Perinatology; 31; 6; 6-2013; 447-4540735-1631CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pubmed/23966126info:eu-repo/semantics/altIdentifier/doi/10.1055/s-0033-1351660info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-10T13:19:28Zoai:ri.conicet.gov.ar:11336/103840instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-10 13:19:28.32CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
title Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
spellingShingle Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
Campaña, Hebe
Epidemiology
minor anomalies
predictors
birth defects
title_short Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
title_full Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
title_fullStr Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
title_full_unstemmed Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
title_sort Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects
dc.creator.none.fl_str_mv Campaña, Hebe
Rittler, Monica
Poletta, Fernando Adrián
Gili, Juan Antonio
Pawluk, Mariela Soledad
Scala, Sandra Constanza
Camelo, Jorge Santiago López
author Campaña, Hebe
author_facet Campaña, Hebe
Rittler, Monica
Poletta, Fernando Adrián
Gili, Juan Antonio
Pawluk, Mariela Soledad
Scala, Sandra Constanza
Camelo, Jorge Santiago López
author_role author
author2 Rittler, Monica
Poletta, Fernando Adrián
Gili, Juan Antonio
Pawluk, Mariela Soledad
Scala, Sandra Constanza
Camelo, Jorge Santiago López
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Epidemiology
minor anomalies
predictors
birth defects
topic Epidemiology
minor anomalies
predictors
birth defects
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs). Objectives To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs. Study Design Information of newborns with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations) database. The sample consisted of 27,247 live- and stillborn newborns with multiple malformations that included at least one of the selected MDs or mAs. The odds ratio and predictive values were calculated for significant associations, and concurrence rates in first degree relatives. Results A total of 33 significant minor–major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with 10 MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Newborns with preauricular tags had significantly more relatives with microtia than expected. Conclusions No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same newborn. However, preauricular tags can predict the occurrence of microtia in other family members.
Fil: Campaña, Hebe. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Rittler, Monica. Universidad de Buenos Aires; Argentina
Fil: Poletta, Fernando Adrián. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; Argentina
Fil: Gili, Juan Antonio. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; Argentina
Fil: Pawluk, Mariela Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Scala, Sandra Constanza. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Camelo, Jorge Santiago López. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina. Centro de Educación Médica e Investigaciones Clínicas "Norberto Quirno"; Argentina
description Background Minor anomalies (mAs) are morphological features with little clinical relevance that have been mentioned as possible predictors of major defects (MDs). Objectives To identify the preferential associations between selected MDs and mAs and to establish if mAs can serve as predictors for specific MDs. Study Design Information of newborns with birth defects was obtained from the ECLAMC (Latin American Collaborative Study of Congenital Malformations) database. The sample consisted of 27,247 live- and stillborn newborns with multiple malformations that included at least one of the selected MDs or mAs. The odds ratio and predictive values were calculated for significant associations, and concurrence rates in first degree relatives. Results A total of 33 significant minor–major associations were identified. Single umbilical artery (SUA) and preauricular tags were the most frequent mAs; the former was associated with 10 MDs, the latter only with microtia. The highest positive predictive value was shown by SUA for anal atresia. Newborns with preauricular tags had significantly more relatives with microtia than expected. Conclusions No new relevant associations between MDs and mAs were identified and few mAs seem to serve as predictors for specific MDs in the same newborn. However, preauricular tags can predict the occurrence of microtia in other family members.
publishDate 2013
dc.date.none.fl_str_mv 2013-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/103840
Campaña, Hebe; Rittler, Monica; Poletta, Fernando Adrián; Gili, Juan Antonio; Pawluk, Mariela Soledad; et al.; Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects; Thieme Medical Publ Inc; American Journal of Perinatology; 31; 6; 6-2013; 447-454
0735-1631
CONICET Digital
CONICET
url http://hdl.handle.net/11336/103840
identifier_str_mv Campaña, Hebe; Rittler, Monica; Poletta, Fernando Adrián; Gili, Juan Antonio; Pawluk, Mariela Soledad; et al.; Minor Anomalies: Can They Predict Specific Major Defects? A Study Based on 23 Major and 14 Minor Anomalies in Over 25,000 Newborns with Birth Defects; Thieme Medical Publ Inc; American Journal of Perinatology; 31; 6; 6-2013; 447-454
0735-1631
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.ncbi.nlm.nih.gov/pubmed/23966126
info:eu-repo/semantics/altIdentifier/doi/10.1055/s-0033-1351660
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Thieme Medical Publ Inc
publisher.none.fl_str_mv Thieme Medical Publ Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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