Transcript BIRTH DEFECTS : The problem beyond THE BIG THREE Adam and Eve (Romulus Vuia 1922) Jo Edy Siswanto, dr, SpA(K) Birth Defect Team.

BIRTH DEFECTS : The problem beyond THE BIG THREE
Adam and Eve (Romulus Vuia 1922)
Jo Edy Siswanto, dr, SpA(K)
Birth Defect Team (BIDIC)
Neonatology Working Group
Harapan Kita Women and Children Hospital
Trends of U5MR, IMR and NMR, 1991-2015
Proportion of newborn deaths contributing to child mortality
Targets in 2015:
30%
NMR : 14/ 1000 LB
IMR : 23/ 1000 LB
U5MR: 32/ 1000 LB
43%
Source: IDHS 1987-2012
48%
Country Profile
Total pop*
237.6 m
Women 15-49 years* 131 m
U5*
22.7 m
TFR**
2.6
Total live births
4.7 m
MMR ***
359
NMR**
19
Neonatal deaths*
95 301
Stillbirths (2009)
62 300
Preterm babies (2010) 65 700
34
98
409
6994
81253
provinces
municipalities
districts
sub districts
villages
Source: *Population census 2010; **IDHS 2012; *** IDHS 2012
Hospitals
2162
health centers 9557
integrated health posts 212 629
Midwives
104 060
Community midwives 65 475–
deployed at village level)
Why do neonates die?
29/44
Causes of Neonatal Deaths Globally
Cause
 Preterm birth complications
 Complications during birth (mainly
intrapartum hypoxia)
 Sepsis/meningitis/tetanus
 Pneumonia
 Congenital abnormalities
 Diarrhea
 Other conditions
Percentage
35
23
15
11
9
2
6
73/100
UNICEF. Committing to Child Survival: a Promise Renewed. New York, NY: United Nations Children’s Fund; 2012
SEAR: Major causes of mortality:
Preterm, Pneumonia and Diarrhoea…
71/100
WHO. Global Health Observatory/ accessed Sep 2012)
The proportion of neonatal mortality to under-5 mortality
is increasing from 30% in 1991 to 48% in 2012.
Is there any / how much
contribution
of Congenital Anomalies
to infant mortality ???
Neonatal Mortality for 193 Countries 1990-2009
2.7 million (193 negara, 2010)
Oestergaard MZ. Neonatal Mortality Levels for 193
Countries in 2009 with Trends since 1990: A Systematic
Analysis of Progress, Projections, and Priorities, 2011
Source: Adapted from WHO. Born too soon. The global
action report on preterm birth. Geneva, World Health
Organization, 2012
Congenital conditions: Affect ~ 20 % of newborns
Worldwide
Incidence
Condition
Birth Defects & chromosomal anomalies
5%
---- Heart defects
1%
---- Neural tube defects
---- Down syndrome
Single gene disorders
---- Metabolic diseases
---- Hemoglobin disorders
0.16 %
1%
0.13 %
(1)
< / > 0.23 %
(2)
Preterm birth
9.6 %
Small for gestational age
3 – 10 %
Developmental disabilities
---- Cerebral palsy
---- Hearing loss
(1)
(2)
(3)
(4)
0.1 – 0.4 %
Sanderson et al. 2006, West Midlands, UK.
Beck et al. 2010
Himmelmann et al. 2010, Sweden
Nelson’s Textbook of Pediatrics
?
0.2 %
(3)
0.1 – 0.2 %
(4)
NOTE : frequency of single gene conditions can
vary considerably by population or area
Birth Defects account for 3% to 20% U5MR
90.0
60%
80.0
50%
70.0
60.0
40%
50.0
30%
40.0
30.0
20%
20.0
10%
10.0
0.0
Distribution of causes of deaths (%)
Under-5 mortality rate (per 1,000 births)
Birth Defects, Preterm births and Birth Asphyxia together
account for 35% to 55% of under-5 mortality
and share many risk factors
0%
Birth defects
Prematurity
Birth asphyxia
Under-5 mortality rate
Source: World Health Statistics 2011 http://www.who.int/whosis/whostat/2011/en/index.html (Acknowledge ICBDSR)
Neonatal Mortality in Indonesia
Causes of Death (0-6 days)
Basic Health Survey, 2007
Causes of Death (7-28 days)
Neonatal Causes of Death in Indonesia
In India, about 75% of neonatal deaths occur during the first week, nearly 13%
by the second week
Kurinczuk et al 2010, The contribution of congenital anomalies to infant mortality
Overall Under 5-year Mortality (line) and % of Deaths due to
BDs (bars) by WHO Region and Country Income
40%
160.0
140.0
30%
120.0
100.0
20%
80.0
60.0
10%
40.0
20.0
0.0
0%
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
Deaths due to BDs (%)
Under-5 mortality rate (per 1,000 births)
180.0
Leading Causes of Infant Death
(Within 1 Year): 2001
Infant deaths per 100,000 live births
All races
Cause
of death
Total
LBW
Hispanic*
VLBW
Total
LBW
VLBW
Black, Not
Hispanic
Total
Birth defects
137.6
1011.8 2247.8
146.3
1271.5 2635.3 162.0
Preterm & LBW
109.5
1361.8 7105.0
76.4
1130.5 6261.0 293.5
White, Not
Hispanic
LBW
VLBW
Total
721.7
1291.4
134.1
1071.8 2723.9
77.5
1081.6 6157.1
2159.3 8961.4
LBW
VLBW
SIDS
55.5
139.4
159.4
27.1
78.4
102.5
113.5
230.3
262.3
45.6
122.5
124.5
Maternal
complications
37.3
459.1
2353.6
21.0
303.2
1655.5
85.3
630.1
2608.5
29.3
443.3
2438.8
Source: NVSS, NCHS, CDC.
* Persons of Hispanic origin may be of any race.
The Greek God Hephaestus
The Greek God Hephaestus is the middle figure in this scene, painted on a Greek
amphora. His malformed feet are clearly visible
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Defining Birth Defects
 An abnormality of structure, function or metabolism (body
chemistry) present at birth that results in physical or mental
disabilities or death.
 A diverse group of disorders of prenatal origin, which can be
caused by single gene defects, chromosomal disorders,
multifactorial inheritance, environmental teratogens or
micronutrient deficiencies
 Often also referred to as congenital anomalies. Congenital
disorder or congenital malformations.
KEY FACT



Congenital anomalies may result in long-term disability,
which may have significant impacts on individuals,
families, health-care systems and societies.
Although congenital anomalies may be genetic,
infectious or environmental in origin, most often it is
difficult to identify the exact causes.
Many congenital anomalies can be prevented. For
example, vaccination, adequate intake of folic acid and
iodine, and adequate antenatal care are keys for
prevention.
Prevalence of Birth Defects (MoD estimates)
Estimated number (per 1,000 – per year) of infants with birth defects (BD, Chrom, Single Gene, Genetic-Haemolysis/Jaundice)
Prevalence per 1,000 births
80
70
Others
60
ICD-10 Q00-Q99
50
40
30
20
10
• Congenital heart defects:
• Neural tube defects:
• Down syndrome:
0
Source: March of Dimes Global Report on Birth Defects, 2006
1,000,000
350,000
220,000
Health impact of birth defects
WHO Report 2006


Mortality: Serious birth defects can be lethal during
newborn period and infancy, at least 3.3 million children
under five years of age die from birth defects each year
(global)
Disability: an estimated 3.2 million of those who survive
may have lifelong mental, physical, auditory or visual
disability.
Social and economic impact of birth defects:
 poor quality of life ,
 lifelong impairment and diminished productivity,
 social stigma and discrimination,
Economic burden such as
 costly medical or surgical treatment (drugs, diagnosis
and treatment),
 transport to and from medical facilities,
 long-term care of the families, communities and health
systems.
FACTS
• Tomatir, 2000 – 2004 : 2.9/1000
• Han XY
– 1998 – 2002: prevalence 3,1%.
– 2003 – 2007: prevalence 8,7%,
• Dolk,
(EUROCAT)2003 – 2007 ,prevalence : 2,39%.
• About 120,000 babies (1 in 33) in the United States
are born each year with birth defects.
Several thousand different birth defects have been
identified.
Birth defects are the leading cause of death in the
first year of life.
In the United States...
•
•
•
•
Every 8 seconds a baby is born; 10,799 babies are born daily
Every 3 minutes a baby is born with a birth defect
17 babies die due to a birth defect each day
More than 1 in 5 infant deaths are due to birth defects
Birth defects are the leading cause of infant mortality with
20 - 25% of perinatal deaths due to lethal birth defects
10% of deaths in infants weighing 500 - 1500 gm
50% of deaths in infants > 1500 gm
•* CDC annual estimate of 150,000 babies born with birth defects
•Source: National Center for Health Statistics, 1998 final natality and 1998 period linked birth/infant death data. Prepared
by March of Dimes Perinatal Data Center, July 2000
Indonesia
• Total 263.154 babies born with birth defects
annually(March of Dimes Birth Defect Foundation,
2006)
• Prevalensi cacat bawaan: 59,3/1000 kelahiran
hidup (March of Dimes Birth Defect Foundation,
2006)
• 2,55% dari seluruh bayi yang lahir di RSAB
Harapan Kita tahun 1994-2005 mengalami cacat
bawaan (Indrasanto E, Effendi S, 2008 )
Burden of Birth Defects
1 in 33 infants has a birth defect (~3%)
 4.8 million infants globally
1 in 260 infants dies because of a birth defect
 0.6 million infants globally
1 in every 100 expected births in some countries is
terminated because of a birth defect
 Elective Termination of Pregnancy for Fetal Anomaly
(ETOPFA) not often counted in burden estimates
Birth Defects: Underestimated
 Spontaneous Abortions
 ~ 15% of all clinically recognized pregnancies are spontaneously aborted
 ~60-70% of these are associated with BDs
 Stillbirths
 From various sources we can estimate that 10-15% of stillbirths are “due
to” or are “associated with” BDs
 ETOPFA
 Impact is typically missed in official statistics and can lower the apparent
mortality due to BDs (among live births)
 In developed countries, many ETOPFA (and in some cases most) are
severe BDs
 Prenatal mortality due to ETOPFA, if unaccounted for, can bias estimates
of the impact of BDs and of prevention interventions
March of Dimes Global Report on Birth Defects
(2006): A Paucity of Data
 “There is a paucity of data on the birth prevalence of birth defects
in middle- and low-income countries”
 Why?
 Constrained diagnostic capability
 Poor health-related statistics
 Lack of birth defect surveillance and registries
 Reliance on hospital-based rather than population-based
studies
 Systematic underestimation of the toll of birth defects
Identification magnitude of the BD problem
What are the problems?
When did they happen?
How did they arise?
Why did they occur?
What is the diagnosis?
Who else is at risk?
Where can the patient/family get
help?
Can anything be done to limit the frequency and
impact of birth defects?




In some cases especially those that involve inherited conditions - the
answer is no.
However, in other cases, favorable prenatal environment and early
treatment can prevent or reduce the phenotypic effects of birth
defects, including a variety of defects that have a genetic basis.
Although many birth defects cannot be prevented, the probability of
some such conditions can be reduced through awareness of the
effects of various prenatal factors, including nutrients, teratogens,
and mutagens.
early detection and/or treatment of congenital defects can sometimes
reduce the long-term impact of these conditions, perhaps even
alleviating them completely.
HOW TO SOLVE THE PROBLEM ??
Birth Defects COUNT birth defects surveillance
Continuous and systematic
 Monitoring
 Collection
 Analysis
 Interpretation
 Dissemination of BD data
Allows for
Planning
Implementation and evaluation of
prevention strategies
Integrates data in the decision
making process for birth defects
prevention
HOW TO SOLVE THE PROBLEM
CONCEPTION
Primary
prevention
Ennviromental prophylaxis
genetic counseling
NORMAL
GENOTYPE
ABNORMAL
GENOTYPE
Gene Theraphy
Secondary
prevention
(prenatal screening
selective termination )
HEALTH
DISEASE
Symptomatic theraphy
HOW TO SOLVE THE PROBLEM ??
WHO response

In 2010, the World Health Assembly issued a report on
birth defects. The report describes the basic components
for creating a national programme for the prevention and
care of birth defects before and after birth. It also
recommends priorities for the international community to
assist in establishing and strengthening these national
programmes.
HOW TO SOLVE THE PROBLEM
In 2010 the World Health Assembly adopted a resolution
calling all Member States to promote primary prevention
and the health of children with congenital anomalies by:




developing and strengthening registration and
surveillance systems;
developing expertise and building capacity;
strengthening research and studies on etiology,
diagnosis and prevention;
promoting international cooperation.

The Global Strategy for Women’s and Children’s Health, launched in
2010 by the UN in collaboration with leaders from governments and
other organizations like WHO and UNICEF, has been crucial in
implementing high-impact and cost-effective interventions to
improve neonatal and child health.

WHO is also working with the US Centers for Disease Control and
Prevention’s (CDC) National Center on Birth Defects and
Developmental Disabilities and other partners to establish a global
policy for folate fortification at the country-level and to provide
needed technical expertise for the surveillance of neural tube
defects, for monitoring folic acid fortification efforts and for
improving laboratory capacity for folate-preventable birth defects.

The International Clearinghouse for Birth Defects Surveillance and
Research is a voluntary non-profit international organization with an
official relationship with WHO. This organization brings together
birth defect surveillance and research programmes from around the
world in order to investigate and prevent birth defects and to lessen
the impact of their consequences.

The WHO departments of Reproductive Health and Research and
Nutrition for Health and Development in collaboration with
International Clearinghouse for Birth Defects Surveillance and
Research and CDC’s National Center on Birth Defects and
Developmental Disabilities convene annual training programmes on
the surveillance and prevention of congenital anomalies and preterm
births. The WHO Department of HIV and AIDS collaborates with these
partners to strengthen the surveillance of birth defects for women
receiving antiretroviral drugs during pregnancy as integral part of the
monitoring and evaluation of national HIV programmes.

The GAVI Alliance, of which WHO is a partner, is assisting low- and
middle-income countries in improving control and elimination of
rubella and congenital rubella syndrome through immunization.

WHO develops normative tools, including guidelines and a global
plan of action, to strengthen medical care and rehabilitation services
to support the implementation of the Convention on the Rights of
Persons with Disabilities. Similarly WHO supports countries to
integrate medical care and rehabilitation services into overall primary
health care, supports the development of community-based
rehabilitation programmes and facilitates the strengthening of
specialized rehabilitation centres and their links with communitybased rehabilitation
Regional Strategic Framework on
Birth Defects Prevention and Control (SEARO)
•• to establish or strengthen national policies and programmes for birth defects
prevention and control;
•• to develop and strengthen national birth defects surveillance, monitoring and
evaluation mechanisms;
•• to integrate birth defects prevention and control strategies into public health,
maternal and child health, nutrition and other relevant mechanisms;
•• to expand and strengthen national capacity for implementation of birth defects
prevention and control programmes; and
•• to develop and expand national, regional and international multisectoral
partnerships and networks to support birth defects prevention and control
programmes.
In addition, the Framework suggests steps for national implementation and
monitoring indicators for the strategic directions.
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Bangladesh
India
Indonesia
Nepal
WHOCCs-AIIMS
Collation, analysis
and reporting of data
19-21 Aug 2014
Regional Network Meeting, New Delhi
Sri Lanka
Thailand
Prioritization of Birth Defects
1. Have significant public health impact
2. Relatively easy to identify at birth or soon
after birth
3. Can be prevented by primary prevention
4. Early diagnosis and therapy will have a major
impact on quality of life of sufferers.
Birth Defects Priorities in Indonesia
Priority for prevention
Priority in developed surveillance
1
NTD
1. Spina bifida
2. Anencephaly
3. Meningo/Encephalocele
2
Oro-facial clefts
4. Cleft palate
5. Cleft lip
6. Cleft lip and palate
3
Thallasaemia
Genital
7. Hypospadia
8. Epispadia
4
CRS
9. Congenital Cataract
5
Congenital Syphilis
10. Atresia ani
6
Club foot
Musculo sceletal
11. Talipes equinovarus
12. Omphalocele
13. Gastroschizis
14. Extremitas reduction
7
Congenital Hypothyroid
15. Conjuncted twin
Living with a Birth Defect
• Babies who have birth defects often need special
care and interventions to survive and to thrive
developmentally.
• Early intervention is vital to improving outcomes for
these babies.
The goal of BD care is NOT survival alone, but survival
with an acceptable quality of life
Take home massage




BIRTH DEFECTS : The magnitude problem beyond THE
BIG THREE
Birth defects are the leading cause of infant mortality with
20 - 25% of perinatal deaths due to lethal birth defects
(developed countries)  emerging problem in developing
contries
State birth defects tracking programs provide one way to
identify and refer children as early as possible for
services they need.
High light : to expand and strengthen national capacity
for implementation of birth defects prevention and
control programmes