Birth prevalence of Down syndrome in Argentina

https://doi.org/10.18294/sc.2019.1863

Published 16 July 2019 Open Access


Javier Martini Resident physician in medical genetics. National Network of Congenital Anomalies (RENAC), National Center for Medical Genetics (CNGM), National Administration of Laboratories and Health Institutes (ANLIS) , Ministry of Health and Social Development, Argentina. image/svg+xml , María Paz Bidondo Physician specialized in medical genetics and epidemiology. RENAC-CNGM, ANLIS Dr. Carlos G. Malbrán, Ministry of Health and Social Development, Argentina. image/svg+xml , Santiago Duarte Resident physician in medical genetics. RENAC-CNGM, ANLIS Dr. Carlos G. Malbrán, Ministry of Health and Social Development, Argentina. image/svg+xml , Rosa Liascovich PhD in biological sciences. RENAC-CNGM, ANLIS Dr. Carlos G. Malbrán, Ministry of Health and Social Development, Argentina. image/svg+xml , Pablo Barbero Physician specialized in medical genetics, PhD in medicine. RENAC-CNGM, ANLIS Dr. Carlos G. Malbrán, Ministry of Health and Social Development, Argentina. image/svg+xml , Boris Groisman Physician specialized in medical genetics and epidemiology. RENAC-CNGM, ANLIS Dr. Carlos G. Malbrán, Ministry of Health and Social Development, Argentina. image/svg+xml



Abstract views
2732
Metrics Loading ...

Crossref
Scopus
Google Scholar
Europe PMC

Keywords:

Down Syndrome, Epidemiology, Maternal Age, Argentina

Abstract


The aim of this study was to describe the prevalence at birth of Down syndrome in Argentina. The prevalence by jurisdiction and maternal age was calculated for the 2009-2015 period and the prevalence and proportion of prenatal diagnosis was compared according to sub-sector (public and private) and complexity level of the maternity wards. The association of Down syndrome with birth weight and gestational age was analyzed. The data source was the National Network of Congenital Anomalies of Argentina [Red Nacional de Anomalías Congénitas] (RENAC). The prevalence was 17.26 per 10,000 births; by jurisdictions it varied between 10.99 and 23.71; and by maternal age, between 10.32 in women <20 years of age and 158.06 in those ≥45 years of age. In hospitals of the private subsector there was a higher prevalence, attributable to differences in the structure of maternal age, and a greater proportion of prenatal diagnosis. There was a negative correlation between birth weight and Down syndrome (β=-294.7; p<0.001). No difference in the median gestational age at birth between Down syndrome newborns and newborns without major anomalies was found, but the distribution of gestational age differed. Knowledge of certain epidemiological characteristics of this health issue could contribute to the implementation of health policies.


References


1. Rimoin DL, Pyeritz RE, Korf BR. Emery & Rimoin’s principles and practice of medical genetics. 6a ed. Cambridge: Academic Press; 2013.

2. Groisman B, Bidondo MP, Barbero P, Gilib JA, Liascovich R, Grupo de Trabajo RENAC. RENAC: Registro Nacional de Anomalías Congénitas de Argentina. Archivos Argentinos de Pediatría. 2013;111(6):484-494.

3. Dirección de Estadísticas e Información en Salud. Defunciones de menores de 5 años por grupo de edad según causas seleccionadas [Internet]. Buenos Aires: DEIS; 2016 [citado 8 abr 2018]. Disponible en: https://tinyurl.com/yxtk2rz9.

4. Nussbaum RL, McInnes RR, Willard HF. Thompson & Thompson genetics in medicine. 8a ed. Canada: Elsevier; 2016.

5. Snijders RJ, Sundberg K, Holzgreve W, Henry G, Nicolaides KH. Maternal age- and gestation-specific risk for trisomy 21. Ultrasound in Obstetrics & Gynecology. 1999;13:167-170.

6. Wright D, Spencer K, Kagan KK y col. First-trimester combined screening for trisomy 21 at 7–14 weeks’ gestation. Ultrasound in Obstetrics & Gynecology. 2010;36:404-411.

7. Leonard S, Bower C, Petterson B, Leonard H. Survival of infants born with Down’s syndrome: 1980-96. Paediatric and Perinatal Epidemiology. 2000;14:163-171.

8. Glasson EJ, Jacques A, Wong K, Bourke J, Leonard H. Improved survival in Down syndrome over the last 60 years and the impact of perinatal factors in recent decades. Journal of Pediatrics. 2016;169:214-220.

9. Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson: Tratado de pediatría. 18va ed. Barcelona: Elsevier; 2008.

10. Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. Congenital defects among liveborn infants with Down syndrome. Birth Defects Research (Part A). 2007;79:657-663.

11. Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, et al. Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study. American Journal of Medical Genetics Part A. 2014;9999:1-8.

12. Goldman SE, Urbano RC, Hodapp RM. Determining the amount, timing and causes of mortality among infants with Down syndrome. Journal of Intellectual Disability Research. 2011;55:85-94.

13. Berg CJ, Druschel CM, McCarthy BJ, LaVoie M, Floyd RL. Neonatal mortality in normal birth weight babies: does the level of hospital care make a difference? American Journal of Obstetrics Gynecology. 1989;161(1):86-91.

14. Ministerio de Salud de la Nación Argentina. Resolución 641/2012: Directriz de organización y funcionamiento de los servicios de cuidados neonatales [Internet]. Buenos Aires: Ministerio de Justicia y Derechos Humanos de la Nación; 2012 [citado 12 jul 2017]. Disponible en: https://tinyurl.com/y436j5em.

15. International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2014 [Internet]. Roma: ICBDRS; 2014 [citado 12 jul 2017]. Disponible en: https://tinyurl.com/y4fus4ox.

16. Public Health Agency of Canada. Congenital anomalies in Canada 2013: A perinatal health surveillance report [Internet]. Ottawa: Public Health Agency of Canada; 2013 [citado 14 jul 2017]. Disponible en: https://tinyurl.com/y5jkb9lk.

17. Leoncini E, Botto LD, Cocchi G, Annerén G, Bower C, Halliday J, Amar E, Bakker MK, Bianca S, Canessa Tapia MA, et al. How valid are the rates of Down syndrome internationally?: Findings from the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics Part A. 2010;152A(7):1670-1680.

18. EUROCAT prevalence tables. Cases and prevalence of Down syndrome from 2011-2015 [citado 14 jul 2017]. Disponible en: https://tinyurl.com/yypz69we.

19. Bidondo MP, Groisman B, Gili JA, Liascovich R, Barbero P. Estudio de prevalencia y letalidad neonatal en pacientes con anomalías congénitas seleccionadas con datos del Registro Nacional de Anomalías Congénitas de Argentina. Archivos Argentinos de Pediatría. 2015;113(4):295-302.

20. Campaña H, Pawluk MS, López Camelo JS. Prevalencia al nacimiento de 27 anomalías congénitas seleccionadas, en 7 regiones geográficas de la Argentina. Archivos Argentinos de Pediatría. 2010;108(5):409-417.

21. Groisman B, Duarte S, Gili J, Liascovich R, Camelo L, Santiago J, Grupo de Trabajo RENAC. Registro Nacional de Anomalías Congénitas de Argentina, Reporte anual RENAC 2016: Análisis epidemiológico de las anomalías congénitas en recién nacidos registradas en el año 2015 en la República Argentina. Buenos Aires: Ministerio de Salud de la Nación; 2016.

22. Mason CA, Kirby RS, Sever LE. Prevalence is the preferred measure of frequency of birth defects. Birth Defects Research Part A. 2005;73(10):690-692.

23. Dirección de Estadísticas e Información en Salud. Estadísticas vitales [Internet]. Buenos Aires: Ministerio de Salud de la Nación [citado 12 jul 2017]. Disponible en: https://tinyurl.com/y2bftfyw.

24. Dirección Nacional de Maternidad, Infancia y Adolescencia. Mapa sanitario [Internet]. Buenos Aires: Ministerio de Salud de la Nación [citado 7 feb 2018]. Disponible en: http://datos.dinami.gov.ar/produccion/cuadromando.

25. D’Agostino RB, Belanger A, D’Agostino RB Jr. A suggestion for using powerful and informative tests of normality. The American Statistician. 1990;44(4):316-321.

26. Royston P. Comment on sg3.4 and an improved D’Agostino test. Stata Technical Bulletin. 1992;1(3):23-24.

27. International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2013 [Internet]. Roma: ICBDRS centre; 2013 [citado 19 mar 2018]. Disponible en: https://tinyurl.com/y58sag3j.

28. Cuckle HS, Wald NJ, Thompson SG. Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level. British Journal of Obstetrics and Gynaecology. 1987;94(5):387-402.

29. Morris JK, Mutton DE, Alberman E. Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome. Journal of Medical Screening. 2002;9(1):2-6.

30. Langer A. Unwanted pregnancy: impact on health and society in Latin America and the Caribbean. Revista Panamericana de Salud Pública. 2002;11(3):192-204.

31. Goisis A, Schneider D, Myrskylä M. Secular changes in the association between advanced maternal age and the risk of low birth weight: a cross-cohort comparison in the UK. Population Studies. 2018;27:1-17.

32. Campaña H, Ermini M, Aiello HA, Krupitzki H, Castilla EE, López-Camelo JS, Latin American Collaborative Study of Congenital Malformations Study Group. Prenatal sonographic detection of birth defects in 18 hospitals from South America. Journal of Ultrasound in Medicine. 2010;29(2):203-212.

33. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. 4a ed. New York: Oxford University Press; 2001.