Frequency of chromosomal syndromes in the Brazilian population between 2017 and 2021

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Published: Sep 12, 2022
DOI: https://doi.org/10.21876/rcshci.v12i3.1298
Keywords:
Brazil, Congenital anomaly, Epidemiology

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Sarah Sousa Nascimento dos Santos
Centro Universitário Christus
Adrhyann Jullyane de Sousa Portilho
Federal University of Ceará
Caroline Aquino Moreira-Nunes
Federal University of Ceará, Centro Universitário Christus
https://orcid.org/0000-0001-5845-3481

Abstract

Objective: To evaluate the frequency of chromosomal syndromes in the Brazilian population between 2017 and 2021. Methods: This is an active search of open access databases of the Information System on Live Births (SINASC) from the Brazilian Ministry of Health from 2017 to 2021. For statistical analysis, Analysis of Variance (One-way ANOVA) was followed by the Bonferroni post-test, considering a significant level of p < 0,05. The chi-square test was used for correlation analysis. Results: The underreporting of congenital anomalies in Brazil has decreased over the last few years, showing significant values; however, those numbers varied between regions. The chromosomal syndromes with the highest incidence were Down Syndrome (76.15%), Edwards and Patau Syndromes (14.59%) grouped in the same ICD-10, with the South and Southeast regions, with an average frequency of 0.07%, as the leader in notifications. The maternal variables with a higher incidence of chromosomal syndromes were women over 35 years of age, with 8 to 11 years of schooling, and married. Conclusion: There was a decrease in the value related to underreporting over the years. The data show a disparity in the notification of chromosomal syndromes between regions and outline the maternal profile of a higher incidence of chromosomal syndromes.

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1.
Santos SSN dos, Portilho AJ de S, Moreira-Nunes CA. Frequency of chromosomal syndromes in the Brazilian population between 2017 and 2021. Health Sci J [Internet]. 2022Sep.12 [cited 2024May4];12(3):75-2. Available from: https://portalrcs.hcitajuba.org.br/index.php/rcsfmit_zero/article/view/1298
Issue
Vol 12 No 3 (2022): July to September 2022
Section
ORIGINAL ARTICLE
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Author Biographies

Sarah Sousa Nascimento dos Santos, Centro Universitário Christus

Academic of the 4th year of Biomedicine at Centro Universitário Christus. Fortaleza, CE, Brazil

Adrhyann Jullyane de Sousa Portilho, Federal University of Ceará

Graduated in Natural Sciences with Qualification in Biology from the State University of Pará (UEPA) Belém-PA. Master in Oncology and Medical Sciences, with a emphasis in "Health Sciences" from the Federal University of Pará (UFPA). Doctoral student at the Graduate Program in Medical Sciences at the Federal University of Ceará (UFC).

Caroline Aquino Moreira-Nunes, Federal University of Ceará, Centro Universitário Christus

Professor of Genetics and Human Cytogenetics, PhD in Genetics and Molecular Biology at the Federal University of Pará. 

References

1. Marqui ABT. Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis. Rev Bras Saúde Mater Infant. 2018;18(2):265–76. https://doi.org/10.1590/1806-93042018000200002
2. Moore KL, Persaud TVN. Embriologia Clínica. 11st ed. Rio de Janeiro: Grupo GEN; 2020.
3. Carvalho AC, Vieira E, Altenhofen TMG, Jung MS. Perfil clínico-epidemiológico dos pacientes atendidos pelo serviço de genética médica do ambulatório materno infantil da universidade do sul de Santa Catarina. Arq Catar Med [Internet]. 2016 [cited 2022 Feb 15];45(2):11–24. Available from: http://acm.org.br/acm/seer/index.php/arquivos/article/view/72
4. Carmichael SL. Birth defects epidemiology. Eur J Med Gen. 2014 [cited 2022 Jun 17];57(8):355–8. Available from: https://www.sciencedirect.com/science/article/abs/pii/S1769721214000433?via%3Dihub
5. March of Dimes global report on birth defects [Internet]. Marchofdimes.org. 2020 [cited 2022 Jun 17]. Available from: https://www.marchofdimes.org/mission/march-of-dimes-global-report-on-birth-defects.aspx
6. Bremm JM, Cardoso-dos-Santos AC, Magalhães VS, Medeiros-de-Souza AC, Alves RFS, Araujo VEM, et al. Anomalias congênitas na perspectiva da vigilância em saúde: compilação de uma lista com base na CID-10. Epidemiol Serv Saúde. 2020;29(5):e2020164. https://doi.org/10.1590/S1679-49742020000500015
7. Vigilância das Anomalias Congênitas [Internet]. Ministério da Saúde. 2022 [cited 2022 Feb 15]. Available from: https://bit.ly/3AWdgxl
8. Agranonik M, Jung RO. Qualidade dos sistemas de informações sobre nascidos vivos e sobre mortalidade no Rio Grande do Sul, Brasil, 2000 a 2014. Ciênc Saúde Coletiva. 2019;24(5):1945–58. https://doi.org/10.1590/1413-81232018245.19632017
9. Brasil. Ministério da Saúde (MS). Portaria n° 199/GM, de 30 de janeiro de 2014. Institui diretrizes para atenção integral às pessoas com doenças raras no Sistema Único de Saúde - SUS. Brasília: Ministério da Saúde; 2014. Available from: https://bit.ly/3QYhbQR
10. Brasil. Ministério da Saúde (MS). Portaria n° 3.502/GM, de 19 de dezembro de 2017. Institui a Estratégia de fortalecimento das ações de cuidado das crianças suspeitas ou confirmadas para Síndrome Congênita associada à infecção pelo vírus Zika e outras síndromes causadas por sífilis, toxoplasmose, rubéola, citomegalovírus e herpes vírus no Sistema Único de Saúde - SUS. Brasília: Ministério da Saúde; 2017. Available from: https://bit.ly/3wMmKtI
11. Ministério da Saúde. Painel de Monitoramento de Nascidos Vivos - Natalidade - Painéis de Monitoramento - Centrais de Conteúdos - DASNT - SVS/MS [Internet]. Aids.gov.br. 2018 [cited 2022 Feb 15]. Available from: https://bit.ly/3wKEIg6
12. World Health Organization. ICD-10 Version:2019 [Internet]. Who.int. 2019 [cited 2022 Mar 25]. Available from: https://icd.who.int/browse10/2019/en
13. Silva RC, Souza ML, Melo AD. Análise dos Casos Notificados de óbitos fetais por síndromes cromossômicas na região sudeste entre 2000 e 2016: XI Jornada Científica - IFMG Campus Bambuí. 2018 [cited 2022 Feb 15]. Available from: https://bit.ly/3R5HSTM
14. Cardoso-dos-Santos AC, Medeiros-de-Souza AC, Bremm JM, Alves RFS, Araújo VEM, Leite JCL, et al. Lista de anomalias congênitas prioritárias para vigilância no âmbito do Sistema de Informações sobre Nascidos Vivos do Brasil. Epidemiol Serv Saúde. 2021;30(1):e2020835. https://doi.org/10.1590/S1679-49742021000100030
15. Meira JGC, Acosta AX. Políticas de saúde pública aplicadas à genética médica no Brasil. Rev Ciênc Méd Biol. 2009;8(2):189. Available from: https://doi.org/10.9771/cmbio.v8i2.4070
16. Oliveira MM, Andrade SSCA, Dimech GS, Oliveira JCG, Malta DC, Rabello Neto DL, et al. Avaliação do Sistema de Informações sobre Nascidos Vivos. Brasil, 2006 a 2010. Epidemiol Serv Saúde. 2015;24(4):629–40. https://doi.org/10.5123/S1679-49742015000400005
17. Fantin C, Santos ML, Carvalho LB, Gomes NM, Souza LN, Sousa GB. Estudo das anomalias cromossômicas ocorridas em uma maternidade nos anos de 2010 a 2014. Cogitare Enferm. 2017;22(1):e48599. http://doi.org/10.5380/ce.v22i1.48599
18. Toufaily MH, Westgate M-N, Lin AE, Holmes LB. Causes of Congenital Malformations. Birth Def Res. 2018;110(2):87–91. Available from: https://doi.org/10.1002/bdr2.1105
19. Anderka M, Mai CT, Romitti PA, Copeland G, Isenburg J, Feldkamp ML, et al. Development and implementation of the first national data quality standards for population-based birth defects surveillance programs in the United States. BMC Public Health. 2015;15(1):925. https://doi.org/10.1186/s12889-015-2223-2
20. World Health Organization. Congenital anomalies [Internet]. Who.int. World Health Organization: WHO; 2020 [cited 2022 Feb 15]. Available from: https://bit.ly/3KxWs3X
21. Guimarães ALS, Barbosa CC, Oliveira CM, Maia LTS, Bonfim CV. Relationship of databases of live births and infant deaths for analysis of congenital malformations. Rev Bras Saude Mater Infant. 2019;19(4):917–24. https://doi.org/10.1590/1806-93042019000400010
22. Brasil, Conselho Nacional de Secretários de Saúde. Nota técnica 05/2007. Política nacional de atenção integral em genética clínica. Available from: www.conass.org.br/admin/arquivos/NT05-07.pdf
23. Rankin J. Prevalence of congenital anomalies in five British regions, 1991-99. Arch Dis Child Fetal Neonatal Ed [Internet]. 2005 [cited 2022 Jun 14];90(5):F374–9. Available from: https://fn.bmj.com/content/90/5/F374.short
24. Novoa MC, Burnham TF. Desafios para a universalização da genética clínica: o caso brasileiro. Rev Panam Salud Pública [Internet]. 2011 Jan [cited 2022 Mar 19];29(1):61–8. Available from: https://www.scielosp.org/pdf/rpsp/2011.v29n1/61-68/pt
25. Venâncio AC, Costa RD, Zanenga R, Zanenga D, Pinho GHCO, Galera MF. Anomalias cromossômicas: análise da demanda de 28 anos de um laboratório de citogenética do MT. Rev Amrigs [Internet]. 2020 [cited 2022 Feb 15];64(2):179-185. Available from: https://bit.ly/3TIp5zN
26. Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81–3. https://doi.org/10.1007/BF01213097
27. Balkan M, Akbas H, Isi H, Oral D, Turkyılmaz A, Kalkanli S, et al. Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res [Internet]. 2010 [cited 2022 Feb 15]; 9(2):1094-1103. Available from: https://bit.ly/3TvvWMJ
28. Miziara RC, Marques SBS, Marques JHS, Rezende C, Aquino R, Cury Rodrigues V, et al. The cytogenetic examination as a tool for the diagnosis of chromosomal disorders. Int J Morphol [Internet]. 2011 [cited 2022 Feb 15]; 29(1):57-64. Available from: https://bit.ly/3R4uGP1
29. Gomes JCO, Dominguetti CP. Fatores de risco da gravidez tardia. Brazilian Journal of Health and Pharmacy [Internet]. 2021 [cited 2022 Feb 15];3(4):1–9. Available from: https://bit.ly/3wJxvwT
30. Lean SC, Derricott H, Jones RL, Heazell AEP. Advanced maternal age and adverse pregnancy outcomes: A systematic review and meta-analysis. PLOS ONE. 2017;12(10):e0186287. https://doi.org/10.1371/journal.pone.0186287
31. Frederiksen LE, Ernst A, Brix N, Braskhøj Lauridsen LL, Roos L, Ramlau-Hansen CH, et al. Risk of adverse pregnancy outcomes at advanced maternal age. Obst Gynecol. 2018;131(3):457–63. https://doi.org/10.1097/aog.0000000000002504
32. Cimadomo D, Fabozzi G, Vaiarelli A, Ubaldi N, Ubaldi FM, Rienzi L. Impact of maternal age on oocyte and embryo competence. Front Endocrinol (Lausanne). 2018;9:327. doi: https://doi.org/10.3389/fendo.2018.00327
33. Fritz R, Klugman S, Lieman H, Schulkin J, Taouk L, Castleberry N, et al. Counseling patients on reproductive aging and elective fertility preservation—a survey of obstetricians and gynecologists’ experience, approach, and knowledge. J Assist Reprod Genet. 2018;35(9):1613–21. https://doi.org/10.1007/s10815-018-1273-7
34. Iriart JAB, Nucci MF, Muniz TP, Viana GB, Aureliano WA, Gibbon S. Da busca pelo diagnóstico às incertezas do tratamento: desafios do cuidado para as doenças genéticas raras no Brasil. Ciênc Saúde Coletiva. 2019;24(10):3637–50. https://doi.org/10.1590/1413-812320182410.01612019