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Prevention and care of Genetic and Congenital Disorders, including Preconception Care

Prevention and care of Genetic and Congenital Disorders, including Preconception Care

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Prevention and care of Genetic and Congenital Disorders, including Preconception Care

  1. 1. Prevention and care of Genetic and Congenital Disorders, including Preconception Care 63rd Session of the WHO Regional Committee for the Eastern Mediterranean 3-6 OCTOBER 2016, Cairo
  2. 2. Outline • Background and rationale • Magnitude of Congenital and Genetic Disorders (CGDs) in EMR • Interventions to reduce the burden of CGDs in EMR • Discussion on next steps
  3. 3. Background and rationale  Under-5 mortality rate decreased by 48% over the past decade  Neonatal mortality remains high and represents 46% of the under five deaths in the Region  In the EMR, congenital and genetic disorders (CGDs) cause over 25% of neonatal mortality  Consanguinity rate reaches 20%–50% in some countries of the EMR increasing the birth rates of autosomal recessive disorders
  4. 4. Regional Trend in Child & Newborn Mortality, 1990–2015 181 137 91105 6053 45 39 36 0 20 40 60 80 100 120 140 160 180 200 1990 2000 2010 2015 U5MR MDG target NMR Source: Trends in Child Mortality: Estimates Developed by the UN Inter-agency Group for Child Mortality Estimation-Report 2015
  5. 5. Congenital disorders (birth defects) “Any potential pathological conditions arising before birth – whether evident at birth or manifesting later in life” (WHO)
  6. 6. Two main groups – environmental and “constitutional” congenital disorders
  7. 7. Total congenital disorders, births /1,000 if no intervention (baseline birth prevalence) by WHO Regions The baseline birth prevalence of chromosomal disorders, congenital malformations and baseline single gene disorders is similar in all regions. EMR has the highest rate for consanguinity associated disorders. B Modell ,2016 0 10 20 30 40 50 60 70 AFR AMR EMR EUR SEAR WPR World W Europe Affectedbirths/1,000 Environmental G6PD defic NNJ Rhesus haem disease Consanguinity-associated Sickle cell Thalassaemia Baseline single gene Congenital malformations Sex chromosomes Down etc
  8. 8. Total congenital disorders, births /1,000 with no interventions (baseline birth prevalence) The Gulf States provide an EMR reference Region with near-equitable access to all available services, for comparison with Western Europe
  9. 9. Promoting Preconception Care (PCC) in EMR.2015-2016 -Reviewed PCC health needs -Updated evidence-based interventions -Identified priority actions -Defined PCC Regional core interventions based on evidence -Defined programmatic steps -Agreed on PCC Regional core package & programmatic steps with partners -Defined collaborative mechanisms -Reviewed CGDs magnitude -Agreed on priority CDGs interventions -Proposed requirements for prevention and care March 2015 July 2016 February 2016 September 2015
  10. 10. Stages of prevention and care of genetic and congenital disorders, including preconception care Conception and Pregnancy Childbirth care Packages of Prevention and Care Pregnancy stages Live birth Pre-pregnancy interventions Prenatal interventions Pre- Conception
  11. 11. Criteria for Interventions • Evidence-based, high-impact interventions • Cost-effective • Feasible to implement • Sustainable • Acceptable and culturally sensitive
  12. 12. Interventions to reduce burden of CGDs at the preconception/premarital stage Supplementation and fortification folate, iron Immunization Rubella, hepatitis B Screening for carriers of common autosomal recessive disorders Screening and treatment of infections syphilis, toxoplasmosis and HIV/AIDS Screening , diagnosis and optimal management of diabetes Blood grouping including Rh Genetic family history & referral of high risk families Healthy life style, cessation of smoking
  13. 13. Interventions to reduce burden of CGDs during pregnancy Management of maternal conditions including diabetes Treatment of infections Avoidance of teratogens (toxoplasmosis) Avoidance of tobacco and prevention of environmental pollution Prenatal screening by maternal serum markers and by ultra sound Fetal Care such as Rh incompatibility Supplement with iron Supplement with folate
  14. 14. Estimated effect of Rubella immunisation in the EMR 0.0 0.1 0.2 0.3 0.4 0.5 0.6 Gulf States N Afr /M East South Asia East Africa EMR total Rate/1,000births Rubella prevented /1,000 Preventable Rubella /1,000 Rubella usually occurs in epidemics at around 10-11 year intervals An average annual estimate is used in this graph
  15. 15. Estimated effect of folic acid flour fortification in the EMR 0.0 0.5 1.0 1.5 2.0 2.5 3.0 3.5 4.0 Gulf States N Afr /M East South Asia East Africa EMR total Rate/1,000births Malformations actually prevented /1,000 Preventable malformations /1,000 In addition to neural tube defects, folic acid flour fortification prevents some oro-facial clefts and congenital heart disease
  16. 16. Conclusion  Newborn death is almost 50% the death of children under the age of five in EMR  Congenital disorders constitute 25% of total newborn death  Evidence-based, high impact interventions contribute to high reduction of the burden of CGDs  Disability remains a challenge and will increase with improved survival  Targeted policies and strategies are needed
  17. 17. Future steps  Update epidemiological status of CGDs at country and Regional levels  Establish a national committee for prevention and management of CGDs  Develop necessary policies and strategies to respond to CGDs  Prioritize evidence-based, high impact and cost-effective interventions  Strengthen measurement and surveillance tools in line with SDGs targets
  18. 18. Pillars for introducing and strengthening the interventions targeting CGDs Increasing public awareness and literacy Surveillance and registries for GCDS Genetic centers /laboratory for diagnosis Management Preconception care Commitment of policy makers Basic Pillars Integration into Primary health care Training and education of health care providers Population screening programs
  19. 19. THANK YOU

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