Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research
- Autores
- Botto, Lorenzo; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo Enrique; Clementi, Maurizio; Cocchi, Guido; de Walle, Hermien E. K.; Halliday, Jane; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Marengo, Lisa K.; Martínez Frías, María Luisa; Merlob, Paul; Morgan, Margery; Muñoz, Leonora Luna; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Mastroiacovo, Pierpaolo
- Año de publicación
- 2011
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex.
Fil: Botto, Lorenzo. Utah Department of Health; Estados Unidos. University of Utah Health Sciences Center; Estados Unidos
Fil: Feldkamp, Marcia L.. University of Utah Health Sciences Center; Estados Unidos. Utah Department of Health; Estados Unidos
Fil: Amar, Emmanuelle. Rhone-alps Registry of Birth Defects Remera; Francia
Fil: Carey, John C.. Utah Department of Health; Estados Unidos. University of Utah Health Sciences Center; Estados Unidos
Fil: Castilla, Eduardo Enrique. Instituto Nacional de Genética Médica Populacional; Brasil. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina
Fil: Clementi, Maurizio. Università di Padova; Italia
Fil: Cocchi, Guido. Universidad de Bologna; Italia
Fil: de Walle, Hermien E. K.. University of Groningen; Países Bajos
Fil: Halliday, Jane. Royal Children's Hospital, Melbourne; Australia. Victorian Birth Defects Register; Australia
Fil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Italia
Fil: Li, Zhu. Peking University Health Science Center; China
Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Canadá
Fil: Marengo, Lisa K.. Texas Department of State Health Services; Estados Unidos
Fil: Martínez Frías, María Luisa. Universidad Complutense de Madrid; España. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; España
Fil: Merlob, Paul. Tel Aviv University; Israel
Fil: Morgan, Margery. Congenital Anomaly and Register for Wales; Reino Unido
Fil: Muñoz, Leonora Luna. Instituto Nacional de la Nutrición Salvador Zubiran; México
Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania
Fil: Ritvanen, Annukka. National Institute For Health And Welfare; Finlandia
Fil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; Italia
Fil: Mastroiacovo, Pierpaolo. Centre of The International Clearinghouse For Birth Defects Surveillance And Research; Italia - Materia
-
ACARDIA
ACEPHALUS
EPIDEMIOLOGY
MALFORMATION
TRAP SEQUENCE
TWIN REVERSED-ARTERIAL PERFUSION SEQUENCE
TWINNING - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/195596
Ver los metadatos del registro completo
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Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and ResearchBotto, LorenzoFeldkamp, Marcia L.Amar, EmmanuelleCarey, John C.Castilla, Eduardo EnriqueClementi, MaurizioCocchi, Guidode Walle, Hermien E. K.Halliday, JaneLeoncini, EmanueleLi, ZhuLowry, R. BrianMarengo, Lisa K.Martínez Frías, María LuisaMerlob, PaulMorgan, MargeryMuñoz, Leonora LunaRissmann, AnkeRitvanen, AnnukkaScarano, GioacchinoMastroiacovo, PierpaoloACARDIAACEPHALUSEPIDEMIOLOGYMALFORMATIONTRAP SEQUENCETWIN REVERSED-ARTERIAL PERFUSION SEQUENCETWINNINGhttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex.Fil: Botto, Lorenzo. Utah Department of Health; Estados Unidos. University of Utah Health Sciences Center; Estados UnidosFil: Feldkamp, Marcia L.. University of Utah Health Sciences Center; Estados Unidos. Utah Department of Health; Estados UnidosFil: Amar, Emmanuelle. Rhone-alps Registry of Birth Defects Remera; FranciaFil: Carey, John C.. Utah Department of Health; Estados Unidos. University of Utah Health Sciences Center; Estados UnidosFil: Castilla, Eduardo Enrique. Instituto Nacional de Genética Médica Populacional; Brasil. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; ArgentinaFil: Clementi, Maurizio. Università di Padova; ItaliaFil: Cocchi, Guido. Universidad de Bologna; ItaliaFil: de Walle, Hermien E. K.. University of Groningen; Países BajosFil: Halliday, Jane. Royal Children's Hospital, Melbourne; Australia. Victorian Birth Defects Register; AustraliaFil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; ItaliaFil: Li, Zhu. Peking University Health Science Center; ChinaFil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; CanadáFil: Marengo, Lisa K.. Texas Department of State Health Services; Estados UnidosFil: Martínez Frías, María Luisa. Universidad Complutense de Madrid; España. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; EspañaFil: Merlob, Paul. Tel Aviv University; IsraelFil: Morgan, Margery. Congenital Anomaly and Register for Wales; Reino UnidoFil: Muñoz, Leonora Luna. Instituto Nacional de la Nutrición Salvador Zubiran; MéxicoFil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; AlemaniaFil: Ritvanen, Annukka. National Institute For Health And Welfare; FinlandiaFil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; ItaliaFil: Mastroiacovo, Pierpaolo. Centre of The International Clearinghouse For Birth Defects Surveillance And Research; ItaliaWiley-liss, div John Wiley & Sons Inc.2011-08info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/195596Botto, Lorenzo; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo Enrique; et al.; Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 262-2731552-4868CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.30318info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.30318info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:57:53Zoai:ri.conicet.gov.ar:11336/195596instacron: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:34982025-09-29 09:57:53.846CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| title |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| spellingShingle |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research Botto, Lorenzo ACARDIA ACEPHALUS EPIDEMIOLOGY MALFORMATION TRAP SEQUENCE TWIN REVERSED-ARTERIAL PERFUSION SEQUENCE TWINNING |
| title_short |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| title_full |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| title_fullStr |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| title_full_unstemmed |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| title_sort |
Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research |
| dc.creator.none.fl_str_mv |
Botto, Lorenzo Feldkamp, Marcia L. Amar, Emmanuelle Carey, John C. Castilla, Eduardo Enrique Clementi, Maurizio Cocchi, Guido de Walle, Hermien E. K. Halliday, Jane Leoncini, Emanuele Li, Zhu Lowry, R. Brian Marengo, Lisa K. Martínez Frías, María Luisa Merlob, Paul Morgan, Margery Muñoz, Leonora Luna Rissmann, Anke Ritvanen, Annukka Scarano, Gioacchino Mastroiacovo, Pierpaolo |
| author |
Botto, Lorenzo |
| author_facet |
Botto, Lorenzo Feldkamp, Marcia L. Amar, Emmanuelle Carey, John C. Castilla, Eduardo Enrique Clementi, Maurizio Cocchi, Guido de Walle, Hermien E. K. Halliday, Jane Leoncini, Emanuele Li, Zhu Lowry, R. Brian Marengo, Lisa K. Martínez Frías, María Luisa Merlob, Paul Morgan, Margery Muñoz, Leonora Luna Rissmann, Anke Ritvanen, Annukka Scarano, Gioacchino Mastroiacovo, Pierpaolo |
| author_role |
author |
| author2 |
Feldkamp, Marcia L. Amar, Emmanuelle Carey, John C. Castilla, Eduardo Enrique Clementi, Maurizio Cocchi, Guido de Walle, Hermien E. K. Halliday, Jane Leoncini, Emanuele Li, Zhu Lowry, R. Brian Marengo, Lisa K. Martínez Frías, María Luisa Merlob, Paul Morgan, Margery Muñoz, Leonora Luna Rissmann, Anke Ritvanen, Annukka Scarano, Gioacchino Mastroiacovo, Pierpaolo |
| author2_role |
author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
ACARDIA ACEPHALUS EPIDEMIOLOGY MALFORMATION TRAP SEQUENCE TWIN REVERSED-ARTERIAL PERFUSION SEQUENCE TWINNING |
| topic |
ACARDIA ACEPHALUS EPIDEMIOLOGY MALFORMATION TRAP SEQUENCE TWIN REVERSED-ARTERIAL PERFUSION SEQUENCE TWINNING |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.3 https://purl.org/becyt/ford/3 |
| dc.description.none.fl_txt_mv |
Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. Fil: Botto, Lorenzo. Utah Department of Health; Estados Unidos. University of Utah Health Sciences Center; Estados Unidos Fil: Feldkamp, Marcia L.. University of Utah Health Sciences Center; Estados Unidos. Utah Department of Health; Estados Unidos Fil: Amar, Emmanuelle. Rhone-alps Registry of Birth Defects Remera; Francia Fil: Carey, John C.. Utah Department of Health; Estados Unidos. University of Utah Health Sciences Center; Estados Unidos Fil: Castilla, Eduardo Enrique. Instituto Nacional de Genética Médica Populacional; Brasil. Fundación Oswaldo Cruz; Brasil. Centro de Educación Medica E Invest.clinicas; Argentina Fil: Clementi, Maurizio. Università di Padova; Italia Fil: Cocchi, Guido. Universidad de Bologna; Italia Fil: de Walle, Hermien E. K.. University of Groningen; Países Bajos Fil: Halliday, Jane. Royal Children's Hospital, Melbourne; Australia. Victorian Birth Defects Register; Australia Fil: Leoncini, Emanuele. Centre Of The International Clearinghouse For Birth Defects Surveillance And Research; Italia Fil: Li, Zhu. Peking University Health Science Center; China Fil: Lowry, R. Brian. Alberta Congenital Anomalies Surveillance System; Canadá Fil: Marengo, Lisa K.. Texas Department of State Health Services; Estados Unidos Fil: Martínez Frías, María Luisa. Universidad Complutense de Madrid; España. Instituto de Salud Carlos III; España. Centro de Investigación Biomédica En Red de Enfermedades Raras; España Fil: Merlob, Paul. Tel Aviv University; Israel Fil: Morgan, Margery. Congenital Anomaly and Register for Wales; Reino Unido Fil: Muñoz, Leonora Luna. Instituto Nacional de la Nutrición Salvador Zubiran; México Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania Fil: Ritvanen, Annukka. National Institute For Health And Welfare; Finlandia Fil: Scarano, Gioacchino. General Hospital “G. Rummo” Benevento; Italia Fil: Mastroiacovo, Pierpaolo. Centre of The International Clearinghouse For Birth Defects Surveillance And Research; Italia |
| description |
Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex. |
| publishDate |
2011 |
| dc.date.none.fl_str_mv |
2011-08 |
| 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/11336/195596 Botto, Lorenzo; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo Enrique; et al.; Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 262-273 1552-4868 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/195596 |
| identifier_str_mv |
Botto, Lorenzo; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo Enrique; et al.; Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research; Wiley-liss, div John Wiley & Sons Inc.; American Journal Of Medical Genetics Part C-seminars In Medical Genetics; 157; 4; 8-2011; 262-273 1552-4868 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
| language |
eng |
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info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.30318 info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.30318 |
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info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
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openAccess |
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application/pdf application/pdf |
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Wiley-liss, div John Wiley & Sons Inc. |
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Wiley-liss, div John Wiley & Sons Inc. |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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