Genetic evaluation of HAND2 gene and its effects on thalidomide embryopathy.

BACKGROUND: HAND2 is a transcription factor important for embryonic development, required for limbs and cardiovascular development. Thalidomide is a drug responsible to a spectrum of congenital anomalies known as Thalidomide Embryopathy (TE), which includes mainly limb and heart defects. It is known that HAND2 interaction with TBX5, an important protein for limbs and heart development, is inhibited by Thalidomide. The aim of this study was to evaluate and characterize HAND2 in the context of TE, and to evaluate its variability in TE individuals. METHODS: DNA from 35 TE subjects was extracted from saliva samples and PCR was performed for amplification and Sanger sequencing of HAND2 coding sequence. RESULTS: The analysis showed only one variant; a synonymous variant p.P51 (rs59621536) in exon 1 found in three individuals. Further in silico evaluation confirmed highly HAND2 conservation, being the 3'UTR the most polymorphic region of the gene. Additional computational analyses classified the variant as neutral, without alteration in splicing and miRNA sites. In silico predictions pointed to alteration of two CpG islands adjacent to the variant; however, we did not observe any alterations on the methylation pattern of HAND2 gene in our sample. Moreover, alteration of the binding site of MeCP2, a nuclear protein involved in DNA methylation, was predicted along with alteration in HAND2 mRNA structure. CONCLUSIONS: Considering HAND2 being a well conserved gene, further studies with a larger sample should be performed to evaluate the role this gene on genetic susceptibility to TE.

Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches.

Recurrent pregnancy loss (RPL) is the most common reproductive failure, reaching 1-5% of women throughout their lives, and having unknown etiology in 50% of the cases. In humans, EGF-CFC1 (Epidermal Growth Factors & Cripto/FRL-1/Cryptic) gene family is composed by TDGF1 and CFC1, two developmental genes. The aim of this study was to investigate the role of EGF-CFC on RPL. To this, multiple approaches were performed; we conducted an expression analysis of TDGF1 and CFC1 using publicly available data from Gene Omnibus Expression (GEO), systems biology analyses and functional prediction; and a molecular analysis carried out in a case-control study. Our GEO analysis showed a decrease in TDGF1 expression in the endometrium (p=0.049) and CFC1 expression in placenta (p=0.015) of women with RPL. Network analysis, gene ontology and literature pointed to a strong connection between EGF-CFC1 gene family to pathways that play key roles during pregnancy, including TGF-ß, c-Src/MAPK/AKT, Notch, TNFα, IFNγ and IL-6. A pathogenicity score developed for this gene family showed that the c.-14+1429T>C (rs3806702) variant in the TDGF1 and the p.Arg47Gln (rs201431919) variant in CFC1 gene would be the ones with the highest deleterious effect for RPL. In the case-control study, which involved 149 women with RPL and 159 controls, no statistical difference was observed in the allele and genotype distributions of the variants studied in the two groups. In this study, we performed extensive bioinformatics analysis for biomarker prioritization followed by experimental validation of proposed selected markers. Although there is no statistical difference in the frequencies of these variants between RPL and controls, the expression analysis results suggest that TDGF1 and CFC1 genes might play a role in RPL. In addition, systems biology analyzes raise the hypothesis that genes in other signaling pathways that may be related to RPL as good candidates for future studies.Abbreviations RPL: recurrent pregnancy loss; EGF-CFC1: Epidermal Growth Factors - Cripto/FRL-1; GEO: Gene Omnibus Expression; KEGG: Kyoto Encyclopedia of Genes and Genomes.

National congenital anomaly registers in the world: historical and operational aspects. / Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais.

OBJECTIVE: To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics. METHODS: This was a documentary study by means of a Medline database search (via PubMed) and searches involving reports, official documents and websites. Studies reporting at least one national registry were included. RESULTS: 40 registers of national congenital anomalies were identified in 39 different countries. All registers included in the study were concentrated in upper-middle or high-income countries located in Europe. Most of the registers were population-based, compulsory notification and with a time limit for notification of up to 1 year of age. The Brazilian register showed the highest annual coverage. CONCLUSION: The registers analyzed showed different characteristics, related to the reality of each country. The results presented provide support for the theme of congenital anomalies surveillance, especially in places where such activity is intended to be implemented.

List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System. / Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil.

OBJECTIVE: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). METHODS: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. RESULTS: The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. CONCLUSION: The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

COVID-19 epidemic in Brazil: Where are we at?

OBJETIVE: To analyze the trends of COVID-19 in Brazil in 2020 by Federal Units (FU). METHOD: Ecological time-series based on cumulative confirmed cases of COVID-19 from March 11 to May 12. Joinpoint regression models were applied to identify points of inflection in COVID-19 trends, considering the days since the 50th confirmed case as time unit. RESULTS: Brazil reached its 50th confirmed case of COVID-19 in 11 March 2020 and, 63 days after that, on May 12, 177,589 cases had been confirmed. The trends for all regions and FU are upward. In the last segment, from the 31st to the 63rd day, Brazil presented a daily percentage change (DPC) of 7.3% (95%CI= 7.2;7.5). For the country the average daily percentage change (ADPC) was 14.2% (95%CI: 13.8;14.5). The highest ADPC values were found in the North, Northeast and Southeast regions. CONCLUSIONS: In summary, our results show that all FUs in Brazil present upward trends of COVID-19. In some FUs, the slowdown in DPC in the last segment must be considered with caution. Each FU is at a different stage of the pandemic and, therefore, non-pharmacological measures should be adopted accordingly.

COVID-19 in Brazil: evolution of the epidemic up until epidemiological week 20 of 2020. / COVID-19 no Brasil: evolução da epidemia até a semana epidemiológica 20 de 2020.

Objective to describe the evolution of COVID-19 in Brazil up until epidemiological week 20 of 2020. Methods this is an ecological study based on data and official documents from the Brazilian Ministry of Health and international organizations; comparisons were made between Brazil and other countries and incidence and mortality rates were calculated. Results by the end of epidemiological week 20, 233,142 cases, and 15,633 deaths had been confirmed for Brazil as a whole and 3,240 (58.2%) of the country's municipalities had reported at least one case; Brazil was at an earlier phase of the pandemic when compared to other countries, except Russia and Turkey, regarding cumulative cases, and except Canada regarding cumulative deaths; the highest rates were found in Brazil's Northern Region states, where Amazonas state had the highest incidence rates(4,474.6/1,000,000) and mortality rates (331.8/1,000,000). Conclusion Brazil is one of the countries with the highest number of confirmed cases and deaths, with marked regional differences.

International collaboration networks for the surveillance of congenital anomalies: a narrative review. / Redes internacionais de colaboração para a vigilância das anomalias congênitas: uma revisão narrativa.

Objective to identify international congenital anomaly surveillance collaboration networks, to list the programs that compose them and to compare their main characteristics. Methods this was a narrative literature review by means of a MEDLINE database search (via PubMed) and searches involving websites, reports and official documents. Results six international congenital anomaly surveillance collaboration networks were identified (ECLAMC, ICBDSR, EUROCAT, BINOCAR, SEAR-NBBD and ReLAMC), comprised of 98 programs present in 58 different countries on all continents, except Africa; the main characteristics regarding type of surveillance, coverage and location were discussed in a comparative manner. Conclusion international collaborative networks are important players for congenital anomaly surveillance, contributing to the understanding of the global epidemiological scenario of these conditions, in addition to acting both to strengthen individual existing programs and also to create surveillance initiatives in unassisted regions.

Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10. / Anomalias congênitas na perspectiva da vigilância em saúde: compilação de uma lista com base na CID-10.

OBJECTIVE: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance. METHODS: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list. RESULTS: 898 codes were identified, of which 619 (68.9%) were contained in ICD-10 Chapter XVII. Of the 279 codes contained in other chapters, 19 were exclusive to the ICD-11 search, 72 to the surveillance programs, 79 to Orphanet and 36 to the search for terms in ICD-10. CONCLUSION: The codes contained in ICD-10 Chapter XVII do not capture the totality of congenital anomalies, indicating the need to adopt an expanded list.

Modulation of reactive oxygen species production, apoptosis and cell cycle in pleural exudate cells of carrageenan-induced acute inflammation in rats by rutin.

The present study seeks to investigate the effect of rutin, a flavonoid compound in rat models of acute inflammation induced by carrageenan (CAR). Twenty-four female Wistar rats weighing 222-247 g received saline or 2% λ-carrageenan in the pleural cavity and treatment with rutin (80 mg kg-1) or saline by oral gavage for 21 days prior to the intrapleural induction of CAR. After 4 h of induction, the rats were euthanized, the plasma was prepared from the blood for the analysis of haematological parameters and the pleural exudate was obtained for the analysis of the total cell count, cell viability, reactive oxygen species (ROS) production, apoptosis and cell cycle. The result revealed that rutin exhibited anti-inflammatory effects by modulating the ROS level, apoptosis and cell cycle. This study indicates that rutin may exert a protective effect against ROS-mediated oxidative damage associated with an anti-inflammatory activity in rat models of acute inflammation.

Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais / Registros nacionales de anomalías congénitas en el mundo: aspectos históricos y operativos / National congenital anomaly registers in the world: historical and operational aspects

Objetivo: Identificar registros de anomalias congênitas com cobertura nacional existentes no mundo, destacando suas principais características históricas e operacionais. Métodos: Revisão documental, mediante busca na base Medline/Pubmed e consulta a dados provenientes de relatórios, documentos oficiais e sítios eletrônicos. Foram incluídos trabalhos com relato de pelo menos um registro nacional. Resultados: Foram identificados 40 registros nacionais de anomalias congênitas em 39 países diferentes. Todos os registros incluídos no estudo localizavam-se em países de renda alta ou média superior, com concentração na Europa. A maior parte dos registros foi de base populacional, de notificação compulsória e com tempo limite para notificação de até 1 ano de idade. O registro brasileiro apresentou a maior cobertura anual. Conclusão: Os registros discutidos apresentaram características diversas, relacionadas à realidade de cada país. Os resultados apresentados fornecem subsídios para a temática da vigilância das anomalias congênitas, sobretudo em locais onde se deseja implementar tal atividade.

Objetivo: Identificar registros de anomalías congénitas con cobertura nacional existentes en el mundo, destacando sus principales características históricas y operativas. Métodos: Revisión documental de literatura en la base de datos Medline/Pubmed y datos de informes, documentos oficiales y sitios web. Se incluyeron trabajos con informes de al menos un registro nacional. Resultados: Se identificaron 40 registros nacionales de anomalías congénitas en 39 países diferentes. Todos los registros incluidos se ubicaron en países de ingresos altos y medianos altos, con una concentración en Europa. La mayoría de los registros eran de base poblacional, con notificación obligatoria y un límite de tiempo de notificación de hasta 1 año. El registro brasileño presentá la cobertura anual más alta. Conclusión: Los registros discutidos presentaban características diferentes y relacionadas con la realidad de cada país. Los resultados presentados proporcionan subsidios para la vigilancia de anomalías congénitas, especialmente en lugares que deseen implementar dicha actividad.

Objective: To identify registers of congenital anomalies with national coverage currently available around the world, highlighting their main historical and operational characteristics. Methods: This was a documentary study by means of a Medline database search (via PubMed) and searches involving reports, official documents and websites. Studies reporting at least one national registry were included. Results: 40 registers of national congenital anomalies were identified in 39 different countries. All registers included in the study were concentrated in upper-middle or high-income countries located in Europe. Most of the registers were population-based, compulsory notification and with a time limit for notification of up to 1 year of age. The Brazilian register showed the highest annual coverage. Conclusion: The registers analyzed showed different characteristics, related to the reality of each country. The results presented provide support for the theme of congenital anomalies surveillance, especially in places where such activity is intended to be implemented.

Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil / Lista de anomalías congénitas prioritarias para la vigilancia bajo el Sistema de Información sobre Nacidos Vivos en Brasil / List of priority congenital anomalies for surveillance under the Brazilian Live Birth Information System

Objetivo: Definir a lista de anomalias congênitas prioritárias para o aprimoramento do registro no Sistema de Informações sobre Nascidos Vivos (Sinasc). Métodos: A partir da Décima Revisão da Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde (CID-10), protocolos internacionais e reuniões com especialistas, a lista de anomalias prioritárias foi construída considerando-se dois critérios principais: ser diagnosticável ao nascimento; e possuir intervenção disponível em diferentes níveis. A lista foi submetida a apreciação da Sociedade Brasileira de Genética Médica e Genômica. Resultados: Compuseram a lista oito grupos de anomalias congênitas distribuídos de acordo com o tipo de anomalia relacionada, bem como a parte do corpo afetada e sua correspondência ao código do capítulo XVII da CID-10. Conclusão: A lista de anomalias congênitas prioritárias para notificação fornece subsídios para o aprimoramento do registro no Sinasc.

Objetivo: Definir la lista de anomalías congénitas prioritarias para perfeccionar el registro en el Sistema de Información de Nacidos Vivos (Sinasc). Métodos: Con base en la Clasificación Internacional de Enfermedades, Décima Revisión (CIE-10), protocolos internacionales y reuniones con especialistas, la lista de anomalías prioritarias se construyó considerando dos criterios principales: ser diagnosticables al nacer y tener intervención disponible en diferentes niveles. La lista fue sometida a la consideración de la Sociedad Brasileña de Genética y Genómica Médica. Resultados: La lista comprendía ocho grupos de anomalías congénitas distribuidos según el tipo de anomalía relacionada, así como la parte del cuerpo afectada, todos ellos relacionados con algún código del capítulo XVII de la CIE-10. Conclusión: La lista de anomalías congénitas prioritarias para notificación proporciona subsidios para mejorar el registro en Sinasc.

Objective: To define the list of priority congenital anomalies for improving their recording on the Brazilian Live Birth Information System (Sinasc). Methods: Based on the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10), international protocols and meetings with specialists, the list of priority anomalies was built considering two main criteria: being diagnosable at birth and having intervention available at different levels. The list was submitted for consideration by the Brazilian Medical Genetics and Genomics Society. Results: The list comprised eight groups of congenital anomalies distributed according to the type of related anomaly, as well as the affected part of the body and its corresponding code in ICD-10 Chapter XVII. Conclusion: The list of priority congenital anomalies for notification provides a basis for improving case recording on Sinasc.

COVID-19 no Brasil: evolução da epidemia até a semana epidemiológica 20 de 2020 / COVID-19 en Brasil: evolución de la epidemia hasta la semana epidemiológica 20 de 2020 / COVID-19 in Brazil: evolution of the epidemic up until epidemiological week 20 of 2020

Objetivo: descrever a evolução da COVID-19 no Brasil até a Semana Epidemiológica (SE) 20 de 2020. Métodos: estudo ecológico baseado em dados e documentos do Ministério da Saúde brasileiro e órgãos internacionais; foram realizadas comparações do Brasil com outros países e calculadas taxas de incidência e de mortalidade. Resultados: até o fim da SE 20, no país havia 233.142 casos, 15.633 óbitos confirmados e 3.240 (58,2%) dos municípios apresentavam pelo menos um caso; o Brasil estava em uma fase anterior da pandemia quando comparado aos demais países, exceto Rússia e Turquia, em casos acumulados, e Canadá, em óbitos acumulados; as maiores taxas foram encontradas em Unidades da Federação da Região Norte, com o Amazonas apresentando as maiores taxas de incidência (4.474,6/1 milhão) e mortalidade (331,8/1 milhão). Conclusão: o Brasil está entre os países com maiores números de casos e óbitos confirmados, exibindo notáveis diferenças regionais.

Objetivos: describir la evolución de COVID-19 en Brasil hasta la Semana Epidemiológica (SE) 20 de 2020. Métodos: estudio ecológico basado en datos y documentos del Ministerio de Salud Brasileño y organismos internacionales; se hicieron comparaciones entre Brasil y otros países y fueran calculadas las tasas de incidencia y mortalidad. Resultados: al final de la SE 20, en el país había 233.142 casos, 15.633 muertes confirmadas y 3.240 (58.2%) de los municipios tenían al menos un caso; Brasil se encuentra en una fase anterior de la pandemia en comparación con otros países, excepto Rusia y Turquía, para los casos acumulados y Canadá, en muertes acumuladas; las tasas más altas se encontraron en las Unidades Federativas en la Región Norte, con Amazonas con las tasas de incidencia más altas (4.474.6/1.000.000) y mortalidad (331.8/1.000.000). Conclusión: Brasil es uno de los países con el mayor número de casos y muertes, con notables diferencias regionales.

Objective: to describe the evolution of COVID-19 in Brazil up until epidemiological week 20 of 2020. Methods: this is an ecological study based on data and official documents from the Brazilian Ministry of Health and international organizations; comparisons were made between Brazil and other countries and incidence and mortality rates were calculated. Results: by the end of epidemiological week 20, 233,142 cases, and 15,633 deaths had been confirmed for Brazil as a whole and 3,240 (58.2%) of the country's municipalities had reported at least one case; Brazil was at an earlier phase of the pandemic when compared to other countries, except Russia and Turkey, regarding cumulative cases, and except Canada regarding cumulative deaths; the highest rates were found in Brazil's Northern Region states, where Amazonas state had the highest incidence rates(4,474.6/1,000,000) and mortality rates (331.8/1,000,000). Conclusion: Brazil is one of the countries with the highest number of confirmed cases and deaths, with marked regional differences.

Redes internacionais de colaboração para a vigilância das anomalias congênitas: uma revisão narrativa / Redes de colaboración internacional para la vigilancia de anomalías congénitas: una revisión narrativa / International collaboration networks for the surveillance of congenital anomalies: a narrative review

Objetivo: identificar as redes de colaboração internacional para vigilância das anomalias congênitas, elencar os programas que as compõem e comparar suas principais características. Métodos: revisão narrativa de literatura, mediante busca na base MEDLINE (via PubMed), em endereços on-line, relatórios e documentos oficiais. Resultados: foram identificadas seis redes de colaboração internacional para a vigilância de anomalias congênitas (ECLAMC, ICBDSR, EUROCAT, BINOCAR, SEAR-NBBD e ReLAMC), compostas por 98 programas presentes em 58 diferentes países de todos os continentes, exceto a África; as principais características quanto ao tipo de vigilância, cobertura e localização foram discutidas de modo comparativo. Conclusão: as redes colaborativas internacionais constituem importantes atores para a vigilância das anomalias congênitas, contribuindo com o entendimento do cenário epidemiológico global desses agravos, além de atuar tanto para o fortalecimento de programas individuais já existentes quanto para a criação de iniciativas de vigilância em regiões desassistidas.

Objetivo analizar la prevalencia de enfermedades respiratorias y diarrea en trabajadores de cooperativas de materiales reciclables en São Paulo, Brasil, y factores asociados. Métodos: estudio transversal en tres cooperativas, con datos recopilados por entrevistas estructuradas y medición de la concentración fungica ambiental; se usó la regresión de Poisson para estimar las razones de prevalencia (RP). Resultados: 156 personas fueron entrevistadas; la mayor prevalencia de asma, enfermedad pulmonar obstructiva crónica (EPOC) y diarrea se produjo en cooperativas con la mayor concentración fúngica total; se observó una mayor prevalencia ajustada de asma en la cooperativa A (RP=8,44 - IC95% 1,09;65,37) y diarrea en C (RP=2,09 - IC95% 1,11;3,94), en comparación con la cooperativa B; la mayor prevalencia de EPOC se observó en los fumadores y ex fumadores (RP=8,66 - IC95% 2,84;26,35). Conclusión: se deben adoptar medidas de control fúngica como prevención de enfermedades en cooperativas de materiales reciclables.

Objective: to identify international congenital anomaly surveillance collaboration networks, to list the programs that compose them and to compare their main characteristics. Methods: this was a narrative literature review by means of a MEDLINE database search (via PubMed) and searches involving websites, reports and official documents. Results: six international congenital anomaly surveillance collaboration networks were identified (ECLAMC, ICBDSR, EUROCAT, BINOCAR, SEAR-NBBD and ReLAMC), comprised of 98 programs present in 58 different countries on all continents, except Africa; the main characteristics regarding type of surveillance, coverage and location were discussed in a comparative manner. Conclusion: international collaborative networks are important players for congenital anomaly surveillance, contributing to the understanding of the global epidemiological scenario of these conditions, in addition to acting both to strengthen individual existing programs and also to create surveillance initiatives in unassisted regions.

Anomalias congênitas na perspectiva da vigilância em saúde: compilação de uma lista com base na CID-10 / Anomalías congénitas desde la perspectiva de la vigilancia de la salud: compilación de una lista basada en la CIE-10 / Congenital anomalies from the health surveillance perspective: compilation of a list based on ICD-10

Objetivo: Propor uma lista de anomalias congênitas com códigos correspondentes na Classificação Estatística Internacional de Doenças e Problemas Relacionados à Saúde - 10ᵃ Revisão (CID-10), visando a aplicação no âmbito da vigilância em saúde. Métodos: Em dezembro de 2019, realizou-se busca nas seguintes fontes de dados: CID-10; CID-11; anomalias monitoradas por três modelos de vigilância; base de informações sobre doenças raras (Orphanet). Realizou-se extração das anomalias a partir dessas fontes, processamento para correspondência com base na CID-10 e compilação mediante revisão manual. Resultados: Foram identificados 898 códigos, dos quais 619 (68,9%) constavam no capítulo XVII da CID-10. Dos 279 códigos de outros capítulos, 19 foram exclusivos da busca na CID-11, 72 dos modelos de vigilância, 79 da Orphanet e 36 da busca de termos na CID-10. Conclusão: Os códigos que constam do capítulo XVII da CID-10 não captam a totalidade das anomalias congênitas, indicando a necessidade de adoção de uma lista ampliada.

Objetivo: Proponer una lista de anomalías congénitas con códigos correspondientes en la décima revisión de la Clasificación Internacional de Enfermedades (CIE), con el objetivo de su aplicación en el ámbito de la vigilancia de la salud. Métodos: En diciembre de 2019, se buscaron las siguientes fuentes: CIE-10; CIE-11; anomalías monitoreadas por tres modelos de vigilancia; y base de informaciones sobre enfermedades raras (Orphanet). Las anomalías se extrajeron de estas fuentes de datos, se procesó en base a la CIE-10 y se compiló con una revisión manual. Resultados: Se identificaron 898 códigos, de los cuales 619 (68,9%) estaban en el Capítulo XVII de la CIE-10. De los 279 códigos en otros capítulos, 19 fueron exclusivos de la búsqueda en la CIE-11, 72 de los modelos de vigilancia, 79 de Orphanet y 36 de la búsqueda de términos en la CIE-10. Conclusión: Los códigos contenidos en el capítulo XVII de la CIE-10 no capturan la totalidad de las anomalías congénitas, lo que indica la necesidad de adoptar una lista ampliada.

Objective: To propose a list of congenital anomalies having corresponding codes in the International Statistical Classification of Diseases and Related Health Problems, 10thRevision (ICD-10), with the aim of applying it in health surveillance. Methods: In December 2019, the following data sources were searched: ICD-10; ICD-11; anomalies monitored by three surveillance programs; and a database of rare diseases (Orphanet). Anomalies were retrieved from these data sources, processed to check for correspondence with ICD-10 and reviewed manually to compile the list. Results: 898 codes were identified, of which 619 (68.9%) were contained in ICD-10 Chapter XVII. Of the 279 codes contained in other chapters, 19 were exclusive to the ICD-11 search, 72 to the surveillance programs, 79 to Orphanet and 36 to the search for terms in ICD-10. Conclusion: The codes contained in ICD-10 Chapter XVII do not capture the totality of congenital anomalies, indicating the need to adopt an expanded list.