Congenital disorders and 3-D Syndrome

Síndrome de las tres D

  • Mariela Larrandaburu Responsable del Plan Integral de Defectos Congénitos y Enfermedades Raras y coordinadora del Registro Nacional (Registro Nacional de Defectos Congénitos y Enfermedades Raras-RNDCER). Médico Genetista, Máster en Genética y Biología Molecular. Ministerio de Salud Pública, Departamento de Planificación Estratégica en Salud, Dirección General de la Salud. Asesora de Genética Médica
  • Ana Noble Ministerio de Salud Pública, Dirección General de la Salud, Departamento de Planificación Estratégica en Salud. Directora. Médica general, Posgrado en Epidemiología, Máster en Políticas de Salud y Gestión UNIBO

Abstract

Congenital defects are a global problem, but their impact on children, on infant mortality and on disability is especially serious in middle and low-income countries. In our country, congenital anomalies and prematurity have been the main causes of infant mortality (MI) for more than a decade, as well as premature mortality at other stages of life and permanent disability. The MI rate shows a reduction of more than 70% from the beginning of the 1980s to 2012, that is, from 38 / 1,000 to 8.65 / 1,000, respectively. Programs led by the Ministry of Public Health (MSP), such as the prevention of acute childhood diarrhea and acute respiratory diseases, the protocol of perinatal care as well as the technology applied to neonatology can explain it. In the last five years, the implementation of public policies aimed at reducing poverty and destitution are added to these elements (1). However, the mortality rate due to malformations, deformations and chromosomal abnormalities (MDAC), ICD-10 (Q00-99) has shown a practically static trend in the last 30 years, standing at around 2.4 / 1,000 and explains a of every four infant deaths (25%) (2), in 2012, the MDACs corresponded to 28% (124/447).

References

(1) Uruguay. Ministerio de Salud Pública. Informe Mortalidad. Montevideo: MSP, 2011. Disponible en: http://www. msp.gub.uy/ucepidemiologia_6487_1.html Consulta: 26 setiembre 2013.
(2) Larrandaburu M, Giachetto G. Importancia de los defectos congénitos y enfermedades raras. In: Pérez M, Acosta C,Callorda C, comps. Seguimiento domiciliario del binomio madre-hijo en situación de vulnerabilidad. Montevideo: Facultad de Enfermería, Comisión Sectorial de Educación Permanente; 2012: 93-104.
(3) Disease Control Priorities Project. Controlling birth defects: reducing the hidden Toll of dying and disabled children in low-income countries. Washington DC: DCPP, 2008. Disponible en: http://www.dcp2.org/file/230/dcpp-twpcongenitaldefects_web.pdf Consulta: 26 setiembre 2013.
(4) Naciones Unidas. Convención sobre los Derechos de las personas con discapacidad. NuevaYork: NU, 2006. Disponible en: http://www.un.org/esa/socdev/enable/documents/tccconvs.pdf Consulta: 26 setiembre 2013.
(5) Uruguay. Ministerio de Salud Pública. Plan Integral sobre Defectos Congénitos. Disponible en: http://www.msp.gub.uy/ uc_8200_1.html Consulta: 17 setiembre 2013.
Published
2013-12-31
How to Cite
1.
Larrandaburu M, Noble A. Congenital disorders and 3-D Syndrome. Rev. Méd. Urug. [Internet]. 2013Dec.31 [cited 2024Nov.24];29(4):250-2. Available from: http://www2.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/270
Section
Letters to the Editor