Journal: Advances in Medicine and Engineering Interdisciplinary Research DOI: 10.32629/ameir.v4i3.5469
Abstract
Justification: Down syndrome is the most frequent chromosomopathy in Costa Rica and the world, as well as the main cause of intellectual disability. Advanced maternal age is the main known risk factor for this condition. The objective was to know the trend of Down syndrome in live births according to maternal age in Costa Rica. Methods: A prevalence study was made of all Down syndrome cases, born alive in Costa Rica from 1996 to 2016 and reported to the Costa Rican Births Defects Register Center, a national program for the monitoring of congenital defects. The trend and prevalence in live births was determined, according to maternal age: <20, 20-34 and 35 years or more, and according to period: 1996-2007 and 2008-2016. A Poisson regression was carried out, taking as references the group 20-34 years and the period 1996-2002 and the results were compared Wald's chi-square. The prevalence ratio in mothers ≥35 years and the population attributable fraction was calculated for this stratum. Finally, the trend of Down syndrome was compared with the trend of the specific fertility rate in mothers ≥35 years. Results: For 1996-2016 the prevalence of Down syndrome in live births was 1.02 x 1000 (95% CI: 0.97-1.07). There was a significant increase from 0.91 (1996-2007) to 1.16 x 1000 (2008-2016), at the expense of the prevalence in mothers ≥35 years, which increased from 4.27 to 5.44 x 1000; while the fertility rate in these mothers fell significantly from 20.15 x 1000 (95% CI: 20.02-20.28) in 1996-2007, to 15.58 x 1000 (95% CI 15.46-15.70) in 2008-2016. Maternal age mean MS in SD was 32.2 years, versus 25.5 years in the general population (p≤0.001). The prevalence ratio adjusted by period, in mothers of ≥35 years, against mothers of 20-34 years was of 8.05 (95% CI 7.25-8.95) and the population attributable fraction was 41.22%. Conclusions: The livebirth`s prevalence of Down syndrome in Costa Rica increased for the study period, at the expense of prevalence in mothers ≥35 years, although the specific fertility rate in these women fell significantly. The inclusion of the National Children's Hospital - as a national reference institution for this syndrome - within the surveillance network of congenital defects, could be a determining factor in prevalence rise.
Keywords
Down syndrome; epidemiology; maternal age; prevalence
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[29] Ferrero ME, Alonso F, Cendán I, Roca J, et al. Tendencias del síndrome de Down en Cuba, su relación con edad materna y tasa de fecundidad. Rev Cubana Pediatr. 1998;70(3):141-147.
[30] Morris JK, Wald NJ, Mutton DE, Alberman E. Comparison of models of maternal age-specific risk for Down syndrome live births. Prenat Diagn. 2003;23(3):252-258.
[2] Morris JK, Wald NJ, Watt HC. Fetal loss in Down syndrome pregnancies. Prenat Diagn.1999; 19(2):142-145.
[3] Loane M, Morris JK, Addor M-C, Arriola L, et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet. 2013;21(1):27-33.
[4] Cocchi G, Gualdi S, Bower C, Halliday J, et al. International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies. Birt Defects Res A Clin Mol Teratol. 2010;88(6):474-479.
[5] Nazer H J, Cifuentes O L. Estudio epidemiológico global del síndrome de Down. Rev Chil Pediatría. 2011; 82(2): 105-112.
[6] Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-227. [Consulta:11 de octubre de 2018]. Disponible en: http://doi.wiley.com/10.1002/mrdd.20157.
[7] Parker SE, Mai CT, Canfield MA, Rickard R, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birt Defects Res A Clin Mol Teratol. 2010;88(12):1008-1016.
[8] INCIENSA.Centro de Registro de Enfermedades Congénitas(CREC). Prevalencia de enfermedades congénitas por provincias y cantones, Costa Rica 1987-2000. 1ª Ed. Tres Rios, Costa Rica: INCIENSA; 2002: 23-28.
[9] Barboza-Argüello M de la P, Umaña-Solís LM. Análisis de diez años de registro de malformaciones congénitas en Costa Rica. Acta Médica Costarric. 2008;50(4).
[10] Benavides A, Barboza-Argüello M. Informe de vigilancia de defectos congénitos Costa Rica, 2014. Unidad de Vigilancia Especializada de Defectos Congénitos, INCIENSA. [Consulta: 13 de enero de 2019]. Disponible en: http://www. inciensa.sa.cr/vigilancia_epidemiologica/informes_vigilancia/2014/Malformaciones%20Congenitas/Informe%20Epidemiologico%20Anual%20 de%20Defectos%20Congenitos.%20Costa%20Rica%202014.pdf.
[11] Benavides A, Barboza-Argüello M. Centro de Registro de Enfermedades Congénitas. Informe de vigilancia de defectos congénitos Costa Rica, 2015. Unidad de Vigilancia Especializada de Defectos Congénitos, INCIENSA. [Consulta: 13 de enero de 2019]. Disponible en: http://www.inciensa.sa.cr/ vigilancia_epidemiologica/informes_vigilancia/2015/Malformaciones%20Congenitas/Informe%20epidemiologico%20anual%20de%20Defectos%20 Congenitos%202015.pdf.
[12] Benavides A, Barboza-Argüello M. Centro de Registro de Enfermedades Congénitas de la P. Informe de vigilancia de defectos congénitos Costa Rica, 2016. Unidad de Vigilancia Especializada de Defectos Congénitos, INCIENSA. [Consulta: 13 de enero de 2019]. Disponible en: http://www.inciensa.sa.cr/ vigilancia_epidemiologica/informes_vigilancia/2016/Malformaciones%20 Congenitas/Informe%20epidemiologico%20anual%20de%20defectocs%20 congenitos.%20%20Costa%20Rica%202016.pdf.
[13] Arumugam A, Raja K, Venugopalan M, Chandrasekaran B, et al. Down syndrome-A narrative review with a focus on anatomical features: Down Syndrome. Clin Anat . 2016;29(5):568-577.
[14] Kaminker P, Armando R. Síndrome de Down: Primera parte: enfoque clínico-genético. Arch Argent Pediatría. 2008;106(3):249-259.
[15] Coppedè F. Risk factors for Down syndrome. Arch Toxicol . 2016;90(12):2917-2929.
[16] Sherman SL, Freeman SB, Allen EG, Lamb NE. Risk factors for nondisjunction of trisomy 21. Cytogenet Genome Res. 2005;111(3-4):273-280.
[17] Vraneković J, Božović IB, Grubić Z, Wagner J, et al. Down syndrome: parental origin, recombination, and maternal age. Genet Test Mol Biomark. 2012;16(1):70-73.
[18] Shin M, Besser LM, Kucik JE, Lu C, et al. Prevalence of Down Syndrome Among Children and Adolescents in 10 Regions of the United States.Pediatrics. 2009;124(6):1565-1571.
[19] de Graaf G, Buckley F, Dever J, Skotko BG. Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. Am J Med Genet A. 2018;173(10):2710-2719.
[20] EUROCAT. [Consultado el 28 de enero de 2019].
Disponible en: http://www.eurocat-network.eu/accessprevalencedata/prevalencetables.
[21] Wu J, Morris JK. Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010. Eur J Hum Genet. 2013;21(9):943-947.
[22] Robles MA. Incidencia y prevalencia del síndrome de Down. Revista Síndrome de Down. 2007; 93(24):68-70.
[23] Martínez-Frías ML. Situación del síndrome de Down en nuestro país. Aclaración conceptual sobre su frecuencia y visibilidad. www.madridmasd. org. 2010. [Consulta: 21 de marzo de 2019]. Disponible en : http://www. madrimasd.org/informacionIdi/analisis/analisis/analisis.asp?id=42679.
[24] Lai FM, Woo BH, Tan KH, Huang J, et al. Birth prevalence of Down syndrome in Singapore from 1993 to 1998. Singapore Med J. 2002;43(2):070-076.
[25] Jaruratanasirikul S, Kor-anantakul O, Chowvichian M, Limpitikul W, et al. A population-based study of prevalence of Down syndrome in Southern Thailand. World J Pediatr. 2017;13(1):63-69.
[26] Jou H-J, Kuo Y-S, Hsu J-J, Shyu M-K, et al. The evolving national birth prevalence of Down syndrome in Taiwan. A study on the impact of second-trimester maternal serum screening. Prenat Diagn. 2005;25(8):665-670.
[27] Lin S-Y, Hsieh C-J, Chen Y-L, Steven Shaw S-W, et al. The impact of Down syndrome screening on taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre. PLoS ONE. 2013;8(9). [Consulta: 13 de marzo de 2019]. Dispobible en : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798710/ PMCID: PMC3798710.
[28] Nazer J y Cifuentes L. Malformaciones congénitas en Chile y Latinoamérica: una visión epidemiológica del ECLAMC del período 1995-2008. Rev Med Chile. 2011; 139:72-78.
[29] Ferrero ME, Alonso F, Cendán I, Roca J, et al. Tendencias del síndrome de Down en Cuba, su relación con edad materna y tasa de fecundidad. Rev Cubana Pediatr. 1998;70(3):141-147.
[30] Morris JK, Wald NJ, Mutton DE, Alberman E. Comparison of models of maternal age-specific risk for Down syndrome live births. Prenat Diagn. 2003;23(3):252-258.
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