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Prevention and care of Genetic and Congenital Disorders, including Preconception Care
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. 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. 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. 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. Congenital disorders (birth defects)
“Any potential pathological
conditions arising before birth –
whether evident at birth or
manifesting later in life” (WHO)
6. Two main groups – environmental and
“constitutional” congenital disorders
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. 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. 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. 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. Criteria for Interventions
• Evidence-based, high-impact interventions
• Cost-effective
• Feasible to implement
• Sustainable
• Acceptable and culturally sensitive
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. 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. 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. 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. 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. 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. 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