seminar birth defect

1. Birth Defect: An Upcoming
Problem

2. Background
• With the improvement of child health care overall
mortality decreases but the impact of congenital
malformations increases.
• Lack of prevention strategies as well as limitation
regarding management of birth defect is further increasing
the load.
• Bangladesh is exposed to the various risk factors of birth
defect because of many factors. high fertility rate, large
number of unplanned pregnancy, practice of
consanguineous marriage, non adherence to antenatal
check up, poor maternal nutritional care, high carrier rate
for hemoglobinopathies.

3. Magnitude of Birth Defect
• At Birth 1 in 33 infants has a birth defects ; globally
4.8 million.
• An estimated 3.2 million of those who survive may
have lifelong mental, physical, auditory or visual
disability

4. The standard estimate of birth defects, useful to have a
general idea of the burden
3.0 %
340,000
470,000
540,000
820,000
1,130,000
1,500,000
0 500,000 1,000,000 1,500,000
EUROPE
AMERICAS
EAST-MEDITER
WEST PACIFIC
SOUTH-EAST-ASIA
AFRICA
4,800,000 Globally
=
Data of Total Births 2010 from WHO Statistics Website

5. Under 5-year Mortality (U-5y-M) due to birth defects by
WHO regions: Absolute Numbers
One in 260 infants die because of a birth defect ; globally 0.6 million
29,000
49,000
56,000
71,000
143,000
263,000
0 50,000 100,000 150,000 200,000 250,000 300,000
EUROPE
AMERICAS
WEST PACIFIC
EAST-MEDITER
SOUTH-EAST-ASIA
AFRICA
Number of deaths under 5
Globally 611,000
2010 Data from WHO Statistics website

6. Overall Under 5-year Mortality (line) and % of Deaths due to CMs (bars)
by WHO Region and Country Income
The impact of CMs increases as overall mortality decreases
0%
10%
20%
30%
40%
0.0
20.0
40.0
60.0
80.0
100.0
120.0
140.0
160.0
180.0
Deaths
due
to
Cng
Malf
(%)
Under-5
mortality
rate
(per
1,000
births)
Birth defects Under-5 mortality rate
Legend
Countries income: 1= High, 2=Upper-Middle, 3=Lower-Middle , 4=Low
WHO Regions: AFR=Africa, AM= Americas, EM=Eastern Mediterranean, EU=Europe, SE=South East Asia; WP=Western Pacific
World Health Statistics 2010 data
http://apps.who.int/gho/data/node.main.1?lang=en
http://apps.who.int/gho/data/node.main.1?lang=en
Cong Malf

7. Burden of Birth Defect
• Prevalence at birth
• Mortality: neonatal, infant, under-
5 years
• Elective terminations
• Abortions and stillbirths
• Survival and co-morbidity
• Long term disability
• Quality of life
• Hospitalization
• Economic cost
Tip
of the
iceberg
Mostly
invisible

8. Estimates of Birth Defects in SEAR
Birth Defects prevalence / 1000 live births
58.6 58.4
54.1
64.3
59.3
60.8
58.5
59.9
62.2
59.9 60.3
48
50
52
54
56
58
60
62
64
66
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March of Dimes Global Report on Birth Defects (2006)

9. Bangladesh Perspective
Source: Black et al, Lancet 2010
Diarrhoea (3%)
Tetanus (2%)
Severe Infection
(31%)
Preterm (27%)
Asphyxia (24%)
Congenital
Malformation
(10%)
Other (4%)
4th cause of
Neonatal death

10. Bangladesh perspective
• No national survey regarding birth defects is
available till date
• Two hospital based study were done
• One year study in BSMMU showed an occurrence of
congenital malformation was 3.68%
• Another study done in MMCH between April 2011
to March, 2012 showed frequency of Congenital
malformation 1.75%

11. • Structural birth defects Malformation, deformation,
disruption and dysplasia.
• Functional birth defects
– Developmental disabilities (cerebral palsy, deafness).
– Metabolic diseases (phenylketonuria, galactosemia) .
– Hematologic diseases (Thalassemia, glucose-6-
phosphate dehydrogenase deficiency)
What is Birth Defect?

12. Three domains of classification
Pathogenesis
•Malformation
•Deformation
•Disruption
•Dysplasia
Health Impact
• Major
• Minor
Presentation
• Isolated
• Multiple congenital
anomalies (MCA)
• Syndromes
Malformation Deformation Misshaped ear
Isolated Syndrome
Omphalocele

13. Classification by pathogenesis
Abnormal
formation
of
tissue
Unusual
force
on
normal tissue
Breakdown
of
normal tissue
Abnormal
organization
of
cells of tissue
Malformation Deformation Disruption Dysplasia

14. Health Impact: Major vs. Minor
Major
• Prevalence 3-5%
• Requires treatment or
psychosocial support.
Minor
• Prevalence 10-15%
• Usually does not
require treatment.

15. Classification by clinical presentation
• Isolated
• Multiple congenital anomalies
(MCA)
• Syndromes
Isolated Syndrome

16. Causes of Birth Defects
Genetic
causes(17%) :
Single gene defect
Chromosomal
defect(10%)
 Numerical defect
 Structural defect
Environmental
(4-10%)
 Malnutrition
 Infections
 Tobacco
 Radiation
 Alcohol
 Drugs
 Diseases
Multifactorial
(20%)
(Genetic +
Environmental)
NTD, Cong
Heart defect,
Cleft lip &
palate
Unknown:
60%

17. • Folic acid insufficiency or defficiency
• Maternal age
• Maternal illness
• Use of alcohol during pregnancy
• Obesity
• Tobacco use
• Certain medication
• TORCH infection
Risk Factors Associated with Birth Defects

18. Frequency of exposure
Prepregnancy prevalence of exposure to selected risk
factors
Risk factor Prevalence
Multivitamin non
use
64.9 %
Alcohol use 50.1 %
Smoking 23.2 %
Obesity 21.9 %
Stress 18.5 %
Underweight 13.2 %
Overweight 13.1 %
Risk factor Prevalence
Anemia 10.2 %
Asthma 6.9 %
Physical abuse 3.6 %
Hypertension 2.2 %
Diabetes 1.8 %
Heart problem 1.2 %
Reference: D'Angelo D et al Centers for Disease Control and Prevention (CDC). Pregnancy Risk Assessment Monitoring System (PRAMS), United
States, 26 reporting areas, 2004. MMWR Surveill Summ. 2007 Dec 14;56(10):1-35.
Source: US data from PRAMS 2004

19. Cleft lip and Club foot

20. Gastroschisis and Omphalocele

21. Tongue tie and Congenital Nevus

22. Conjoint Twin

23. Skeletal Deformities

24. Congenital Infections

25. •Preconceptional counseling
•Maternal nutrition and immunization
•Avoidance of smoking, alcohol, drugs, environmental teratogen
• maternal medical management, genetic counseling
Primary
prevention
•Pregnancy interruption after prenatal diagnosis
•In utero medical management of fetal disorders
•In utero surgical management
Secondary
prevention
•Newborn screening
•Identification & management of medical disorders after birth
•Surgical management of defects
Tertiary
prevention
Prevention of Birth Defects

26. Preventing Neural Tube Defect
• Neural Tube Defects (NTDs) develop in 1st month after
conception
• Research has shown that majority of NTDs are
preventable with periconceptional use of folic acid
• To prevent NTDs, it is recommended that all women
capable of becoming pregnant consume at least 400 µg
folic acid daily
• CHALLENGE: High numbers of unplanned pregnancies
worldwide

27. Findings from Cochrane Review
Folic acid alone or in combinations with vitamins and
minerals prevents NTDs but dose not have a clear
effect on other birth defects.
De-Regli LM, Fernandez-Gaxiola AC, Dowswell T, Pena-Rosas JP. Effects and safety of
periconceptional folate supplementation for preventing birth defects. Cochrane Database Syst
Rev. 2010 October 6; (10): CD007950.doi:10.1002/14651858.CD007950.pub2.

28. Global Burden of Neural Tube Defect
• 300,000 globally each year1
• Significant, preventable cause of mortality and
morbidity
 In low-resource countries, 29% of deaths
associated with visible congenital defects due to
NTDs2
1 Christianson A, Howson CP, Model B. March of Dimes Global Report on Birth Defects: the hidden toll of dying
and disabled children. 2006. March of Dimes Birth Defects Foundation, New York.
2 Blencowe, H., S. Cousens, et al. (2010). "Folic acid to reduce neonatal mortality from neural tube disorders."
Int J Epidemiol 39 Suppl 1: i110-121.

29. Challanges
Globally, many women of childbearing age do not
consume enough folic acid to prevent NTDs
 Lack of access to common fortified staple food
products
 Supplements may be too late in pregnancy, costly,
not
acceptable
 Unplanned pregnancy
 Lack of awareness about the importance of folic
acid intake prior to pregnancy

30. 30
Daily Intake Equivalent of 400 µg
of Folic Acid
• 4 slices of fried beef liver
• 44½ medium ripe tomatoes
• 14½ cups of raw broccoli
• 17½ cups of orange juice
• 19½ cups of raw green beans
• 5½ cups of black beans
• 200 medium red apples

31. Diet : natural foods,
vegetables, fruits, beans,
yeast, liver
Fortification: folic acid
added to foods  flour,
rice, pasta, breakfast
cereals
Pills: folic acid-containing
dietary supplements
How to Increase Intake?

32. Fortification of Staple Products with
Folic acid
• Fortification of wheat, flour and rice can address the
global micronutrient malnutrition.
• Worldwide there are limited numbers of micronutrient
fortification programs that include folic acid.
• In many countries women of reproductive age do not
have access to a common, readily available source of
folic acid, such as fortified staple products.
• Flour milling can make fortification a technologically
easy and sustainable way to provide micronutrients.

33. Asian countries shaded in
dark blue have mandatory
fortification for wheat flour,
maize flour, and/or rice.

34. Findings from a systematic review
Systematic review of the literature on MEDLINE
reporting the impact of folic acid fortification of flour
on the prevalence of NTD in 2000-2011.
Conclusion: Fortification of flour with folic acid has
had a major impact on neural tube defects. There is a
need to constantly monitor the levels of flour
fortification to maximize benefits.
Reference: Castillo-Lancellotti C, Tur JA, Uauy R. Impact of folic acid fortification of flour
on neural tube defects: a systematic review. Public Health Nutr. 2013;16(5):901-11

35. Prevention of Rubella
In September 2012, Bangladesh EPI has introduced a combination MR

36. Addressing Birth defects: Where we are?

37. Addressing Birth defects: Where we are?

38. Human resources needed
Local
human
resources
Central
human
resources
Defining the needs
Defining the objectives
Identifying the resources
Collecting data
Assuring data quality
Delivering data
Documenting use and health
impact

39. Take Home Message
• Urgent attention need to be paid on this upcoming
public health problem.
• Many population based strategy need to be adopted
and strengthened.
• Bangladesh has started its expedition to combat birth
defect by establishing NNPD.
• Time has began to explore health system convenience
and gaps and thereby to set up strategic framework for
prevention of birth defect.

40. Thank
you….