Abstract Northeast Brazil was the first region to detect a significant increase in babies born with microcephaly associated with prenatal zika virus infection in 2015. Rio Grande do Sul (RS) state was less impacted due to the temperate climate preventing the spread of the vector. This study investigated the prevalence and etiology of congenital microcephaly in RS in two different periods. This cross-sectional descriptive study included all live births with congenital microcephaly in RS from 2015 to 2022. Cases were divided into two groups: P1 “outbreak” (2015-16); and P2 “endemic” (2017-22). There were 58 cases of microcephaly (3.8/10,000) in P1 and 148 (1.97/10,000) in P2. Congenital Zika Virus infection was the etiology in 5.2% (n=3) in P1 and 6.7% (n=10) in P2. In conclusion, although the ZIKV outbreak in Brazil has receded, RS remains an area of concern, with a possible slight increase of live births with microcephaly secondary to ZIKV prenatal infection relative to the number of cases due to congenital infections. The broader distribution of the vector Aedes aegypti with warmer temperatures in our state might be linked to the increase in recent years. This study can be an alert to other regions of temperate or subtropical climates. (RS periods crosssectional cross sectional 201 2022 groups P “outbreak 201516 16 (2015-16) endemic “endemic 201722. 201722 2017 22 . (2017-22) 5 3.8/10,000 3810000 3 8 10 000 (3.8/10,000 14 1.97/10,000 19710000 1 97 (1.97/10,000 52 2 5.2 n=3 n3 n (n=3 67 6 7 6.7 n=10 n10 (n=10 conclusion receded concern infections years climates 20 202 20151 (2015-16 20172 (2017-22 3.8/10,00 381000 00 (3.8/10,00 1.97/10,00 1971000 9 (1.97/10,00 5. n= (n= 6. n=1 n1 (n=1 (2015-1 (2017-2 3.8/10,0 38100 0 (3.8/10,0 1.97/10,0 197100 (1.97/10,0 (n (2015- (2017- 3.8/10, 3810 (3.8/10, 1.97/10, 19710 (1.97/10, (2015 (2017 3.8/10 381 (3.8/10 1.97/10 1971 (1.97/10 (201 3.8/1 38 (3.8/1 1.97/1 197 (1.97/1 (20 3.8/ (3.8/ 1.97/ 19 (1.97/ (2 3.8 (3.8 1.97 (1.97 ( 3. (3. 1.9 (1.9 (3 1. (1. (1

Abstract The Subcortical Maternal Complex (SCMC) is composed of maternally encoded proteins required for the early stages of embryo development. Here we aimed to investigate the expression profile of the genes that encode the individual members of the SCMC in human reproductive failures. To accomplish that, we selected three datasets in the Gene Expression Omnibus repository for differential gene expression (DGE) analysis, comprising human endometrial and placental tissues of patients with recurrent implantation failure (RIF) or recurrent pregnancy loss (RPL). The SCMC genes KHDC3L, NLRP2, NLRP4, NLRP5, OOEP, PADI6, TLE6, and ZBED3 were included in the DGE analysis, as well as CFL1 and CFL2 that connect the SCMC with the actin cytoskeleton. Additionally, differential co-expression analysis and systems biology analysis of gene-gene co-expression were performed for KHDC3L, NLRP5, OOEP, and TLE6, demonstrating gene pairs differentially correlated under the two conditions, and the co-expression with genes involved in immune response, cell cycle, DNA damage repair, embryo development, and male reproduction. Compared to control groups, NLRP5 demonstrated upregulation in the endometrium of RIF patients, and KHDC3L was upregulated in the fetal placental tissue of RPL patients, shedding light on the importance of considering SCMC genes in reproductive failures. (SCMC development failures (DGE (RIF RPL. . (RPL) KHDCL KHDC L NLRP2 NLRP NLRP4 OOEP PADI6 PADI TLE6 TLE ZBED CFL cytoskeleton Additionally coexpression co genegene conditions response cycle repair reproduction groups (RPL

Abstract Human reproduction goes through many challenges to its success and in many cases it fails. Cases of pregnancy loss are common outcomes for pregnancies, and implantation failures (IF) are common in assisted reproduction attempts. Although several risk factors have already been linked to adverse outcomes in reproduction, many cases remain without a definitive cause. Genetics of female reproduction is a field that may bring some pieces of this puzzle; however, there are no well-defined genes that might be related to the risk for recurrent pregnancy loss (RPL) and IF. Here, we present a literature review of the studies of genetic association in RPL and IF carried out in the Brazilian population and complemented with a database search to explore genes previously related to RPL and IF, where a search for genes previously involved in these conditions was performed in OMIM, HuGE, and CTD databases. Finally, we present the next steps for reproductive genetics investigation, through genomic sequencing analyses and discuss future plans in the study of RPL genetics. The combined strategy of looking for literature and databases is useful to raise hypotheses and to identify underexplored genes related to RPL and IF. fails pregnancies (IF attempts cause puzzle however welldefined well defined (RPL Here OMIM HuGE Finally investigation

ABSTRACT Introduction: Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G>A and g.20210G>A) and hyperhomocysteinemia (g.677C>T and g.1298A>C), samples from voluntary healthy blood donors at the Hospital de Clínicas de Porto Alegre were tested. Methods: We examined 325 blood samples from blood donors collected from October 2017 to July 2018. Blood was collected on filter paper and the DNA was extracted for single nucleotide polymorphisms (SNPs) analysis using the qualitative real time polymerase chain reaction. Results: The calculated frequencies of each genetic variant in heterozygosity were 4% for the FV gene (g.1691G> A), 4% for the F2 gene (g.20210G> A) and 42% and 39% for methylenetetrahydrofolate reductase (MTHFR), g.677C>T and g.1298A>C, respectively. Only the genetic variants of MTHFR were found in homozygosity, with frequencies of 14% and 6% (g.677C>T and g.1298A>C), respectively. Discussion: Altogether, these results describe the frequencies of genetic variants associated with venous thrombosis and hyperhomocysteinemia in the analyzed group and are important to enhance our current knowledge about the genetic profiles of Brazilian blood donors.

Objective: To define the list of priority congenital anomalies for improving the registration in the Brazilian Live Birth Information System (Sinasc). Methods: Based on International Classification of Diseases, Tenth Revision (ICD-10), internation 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 Society of Medical Genetics and Genomics. Results: The list comprised eight groups of congenital anomalies distributed according to the type of anomaly related, as well as the affect body part, all of which were related to some code of chapter XVII of ICD-10. Conclusion: The list of priority congenital anomalies for notification provides subsidies for improving registration at Sinasc.

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 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.

Resumo 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.

Abstract 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.

Resumen 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.

Resumo 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.

Abstract 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.

Resumen 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.

Abstract SARS-CoV-2 virus was first identified in the beginning of 2020 and has spread all over the world, causing the Coronavirus Disease 2019 (COVID-19) pandemic. The virus is a member of the Coronavirus family, which includes viruses that cause common cold, Middle East Respiratory Syndrome (MERS) and Severe Acute Respiratory Syndrome (SARS). MERS and SARS are known by causing adverse events in pregnancy. Considering that SARS-CoV-2 is a new infection agent, little is known about the risk of its infection to human embryo/fetal development. However, SARS and MERS were associated with negative outcomes, such as miscarriage, preterm birth, intrauterine growth restriction and perinatal death. Here, we raise concerns and possibilities related the harmful potential of SARS-CoV-2 and COVID-19 to pregnancy, discussing symptoms, immunological changes during pregnancy, SARS-CoV-2 mutation rate (and the risks related to it). Finally, we point out recommendations to be performed by the scientific community and health care workers in order to identify and to manage potential risks to pregnant women and their babies.

Objective. Propose a list of congenital anomalies with corresponding codes in the tenth revision of the International Classification of Diseases (ICD), aiming at application in the scope of health surveillance. Methods. In December 2019, the following sources were searched: ICD-10, ICD-11, abnormalities monitored by three surveillance programs, and a database of rare diseases (Orphanet). The Abnormalities were extracted from these data sources, processed based on the ICD-10 and compiled with manual review. Results. 898 codes were identified, of which 619 (68.3%) were in Chapter XVII of ICD-10. Of the 279 codes in other chapters, 19 were exclusive of the ICD-11 search, 72 of the surveillance programs, 79 of the Orphanet and 36 of the ICD-10 search for terms. Conclusion. The codes contained in chapter XVII of ICD-10 do not capture the totality of congenital anomalies, indicating the need of adopting of an expanded list.

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 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 (68,3%) 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.

Resumo 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.

Abstract 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.

Resumen 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.

Resumo 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.

Abstract 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.

Resumen 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.

Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of them have confirmed pathogenicity, in silico analysis could help molecular diagnosis and genetic counseling. Here, the pathogenicity of 779 CFTR missense variants was predicted by consensus predictor PredictSNP and compared to annotations on CFTR2 and ClinVar. Sensitivity and specificity analysis was divided into modeling and validation phases using just variants annotated on CFTR2 and/or ClinVar that were not in the validation datasets of the analyzed predictors. After validation phase, MAPP and PhDSNP achieved maximum specificity but low sensitivity. Otherwise, SNAP had maximum sensitivity but null specificity. PredictSNP, PolyPhen-1, PolyPhen-2, SIFT, nsSNPAnalyzer had either low sensitivity or specificity, or both. Results showed that most predictors were not reliable when analyzing CFTR missense variants, ratifying the importance of clinical information when asserting the pathogenicity of CFTR missense variants. Our results should contribute to clarify decision making when classifying the pathogenicity of CFTR missense variants.

Abstract In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is to present the activities of SIAT in its initial years (1990-2006), compared to those in the last decade (2007-2017). In addition we review the scientific contribution of SIAT in the field of human teratogenesis. Since 1990, SIAT received 10,533 calls. Use of medications were the main reason for concern, accounting for 74% of all questions, followed by other chemical exposures (occupational, cosmetics, environmental), and maternal infectious diseases. Among its main contributions to scientific knowledge was the collaboration for the identification of two new human teratogens: misoprostol in the 1990s and Zika virus in 2015/16. In conclusion, SIAT is still evolving, as is the Medical Genetics Service that hosts it. Through its 27 years of existence more than 300 undergraduate and graduate students have rotated at SIAT. Presently, SIAT is expanding the research to experimental teratogenesis and to investigation of molecular mechanisms of teratogens.

Abstract Trisomy 18 (T18) and trisomy 13 (T13) are polymalformative syndromes associated with a high rate of spontaneous abortions, intrauterine death, and short postnatal life. This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support or palliative management of the newborn. Finally, when the counseling process is appropriate, it becomes easier to take decisions respecting the parent’s autonomy and to look for better outcomes for both, the mother and the fetus.

RESUMO O vírus Zika (ZIKV) foi identificado em 1947 em animais na floresta de Zika, em Uganda, mas se tornou um grande risco à saúde pública nos últimos anos. A primeira evidência de infecção humana data de 1952, porém o primeiro surto em seres humanos foi registrado somente em abril de 2007. Na Região das Américas, o Brasil registrou um surto de zika em 2015 e, a partir de meados daquele ano, passou a ser notificado aos órgãos de saúde um número considerável de casos de recém-nascidos com microcefalia grave. Em fevereiro de 2016, a Organização Mundial da Saúde (OMS) decretou que a concentração de casos de microcefalia nas áreas de ocorrência de zika representava uma situação de emergência em saúde pública de interesse internacional. Raras vezes se viu tamanha produção de conhecimento científico em tão pouco tempo. Este artigo examina as consequências da infecção pelo vírus Zika durante a gestação, discorre sobre o diagnóstico e a vigilância de casos de microcefalia e a identificação de um fenótipo clínico da infecção congênita pelo ZIKVS e aponta oportunidades para ação em saúde pública. Os autores consideram ser esta uma oportunidade única aos países da Região das Américas de expandir a capacidade e reforçar e melhorar a qualidade dos sistemas de vigilância de malformações congênitas e os serviços de informação sobre teratogenicidade. Desenvolver instrumentos para avaliar as necessidades em saúde dos países de baixa e média renda pode favorecer a formulação de políticas eficazes que garantam medidas de prevenção primária, secundária e terciária de malformações congênitas. Tais iniciativas possibilitariam o controle da síndrome congênita do zika e também poderiam repercutir mais amplamente em um conjunto importante de afecções congênitas que podem ser prevenidas e controladas.

ABSTRACT The Zika virus (ZIKV) was identified in 1947 in the Zika forest in Uganda, but recently it has emerged as a public health threat. The first evidence of human infection occurred in 1952, but only in April 2007 was the first outbreak in humans recognized. In the Americas, a ZIKV outbreak began in Brazil in 2015, and from the second half of 2015 onward, a substantial number of newborns with severe microcephaly began to be reported to health authorities. In February 2016, the World Health Organization (WHO) declared that the clusters of microcephaly cases in areas affected by ZIKV constituted a Public Health Emergency of International Concern. Seldom has there been such a resultingly vast production of scientific literature in record time. In this report we discuss the impact of ZIKV infection during pregnancy, the diagnosis and surveillance of microcephaly, the recognition of a clinical phenotype of ZIKV congenital infection, and opportunities for public health action. We consider this to be a unique opportunity for countries in the Region of the Americas to develop, strengthen, and improve surveillance systems for congenital anomalies and teratogen information services. Creating health needs assessment tools for low- and middle-income countries may help them to develop effective policies to ensure primary, secondary, and tertiary prevention measures for congenital anomalies. Such initiatives will be useful for ZIKV congenital syndrome control and also for having a much wider impact on a significant proportion of preventable and manageable congenital conditions.

RESUMEN El virus del Zika (ZIKV) se identificó en 1947 en el bosque de Zika, en Uganda, pero recientemente ha surgido como una amenaza para la salud pública. Los primeros datos de la infección en seres humanos surgieron en 1952, pero no fue hasta abril del 2007 que se reconoció el primer brote en seres humanos. En la Región de las Américas, en el 2015 se inició un brote del virus en el Brasil, y desde la segunda mitad de ese año en adelante se empezó a notificar a las autoridades de salud un número considerable de recién nacidos con microcefalia grave. En febrero del 2016, la Organización Mundial de la Salud (OMS) declaró que los conglomerados de casos de microcefalia detectadas en las zonas afectadas por el ZIKV constituían una emergencia de salud pública de importancia internacional. Raramente ha habido una consiguiente producción tan vasta de publicaciones científicas en un tiempo récord. En este informe se aborda la repercusión de la infección por el ZIKV durante el embarazo, el diagnóstico y la vigilancia de la microcefalia, el reconocimiento de un fenotipo clínico de la infección congénita por el ZIKV y las oportunidades para las intervenciones de salud pública. Consideramos que se trata de una oportunidad única para los países de la Región de las Américas de desarrollar, fortalecer y mejorar los sistemas de vigilancia de las anomalías congénitas y los servicios de información sobre teratógenos. La creación de herramientas de evaluación de las necesidades de salud para los países de ingresos bajos y medianos puede ayudarles a elaborar políticas eficaces destinadas a asegurar medidas preventivas primarias, secundarias y terciarias para las anomalías congénitas. Dichas iniciativas serán útiles para el control del síndrome congénito del ZIKV y también para tener una incidencia mucho mayor sobre una proporción significativa de las enfermedades congénitas prevenibles y controlables.