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Birth Defects in South Africa:
surveillance, registries and
the role of the healthcare
practitioner
Dr Helen Malherbe
KRISP, School of Laboratory Med ic ine &
Med ica l Scienc e
Wits UpToSPAED Conferenc e
21 June 2019
Overview
• Definitions• Birth defects in South Africa:
• Epidemiology• Policy & legislation• Genetic Services
• Surveillance: what, why, where, how & who?• SA congenital disorders data 2006-2014 • Registries• The healthcare practitioner
Congenita l abnormalities
Congenita l anomalies
Genetic d isorders
Congenita l malformations
Geboorte afwyking
Congenita l infec tion
Boloetse tsoalo
Inherited disorder
Chromosomal defec t
Genetic d isease
Birth defect
Congenital disorderFamilial diseases
Rare Diseases
kwasekuza lweniAangebore afwyking
Pakuberekwa urema
Runs in the family
One in a million
Congenital disorders….”Any potential
pathological condition
arising before birth,
including all disorders
caused by environmental,
genetic or unknown
factors, whether evident
at birth or manifest later
in life”
Birth defects….”Abnormalities in
structure or function,
including metabolism,
which are present from
birth”
WHO, 2006.
Teratogens/
environmenta l
Multifac torial/
Genetic risk
Monogenic & congenita l
malformations
Chromosomal
disorders
Congenita l
anomalies
(ICD-10
Chap ter XVII)
Ra
re D
ise
ases
Co
ng
en
ita
l D
iso
rde
rs o
r
birth
de
fec
ts
Congenital disorders ≠ congenital anomalies
Single gene
disorders
Terms usedRanking (top 10)
(PUBMED Title abstract ) from 1 Jan 2016 - 30 September 2017
Number Hits Percentage
1 Congenital anomaly/ies 1 645 21%
2 Genetic disorder/s 957 12%
3 Chromosomal abnormality/ies 739 10%
4 Genetic disease/s 695 9%
5 Congenital abnormality/ies 573 7%
6 Genetic abnormality/ies 513 7%
7 Genetic mutation/s 436 6%
8 Congenital malformation/s 376 5%
9 Genetic defect/s 269 4%
10 Birth defect/s 264 3%
11 Congenital disorder/s 225 3%
12 Fetal anomaly/ies 207 3%
13 Congenital disease 138 2%
14 Fetal abnormality/ies 135 2%
15 Teratogens 122 2%
16 Genetic syndrome/s 118 2%
17 Congnital defect/s 87 1%
18 Congenital deformity/ies 80 1%
19 Fetal malformation/s 50 1%
20 Chromosomal disorder/s 32 0%
Total 7 661 100%
70 000(7%) live births
annually affected
by congenital
disorders in SA
Of which 80.5% genetic /partia lly genetic 19.5% teratogens (FAS major
fac tor)
Malherbe et al, 2015. S Afr Med J 2015;105(3):186-188.
1 in every 15 live
births affected by
a congenital
disorder
South Africa
SA
Source: Malherbe et al, SAJBL, May 2016 9(1)
South Africa: an upper middle income country
70%• 40% effec tively cured
• 30% trea ted to improve qua lity of life/mitigate d isab ility
• Cost to NO CARE
Czeizel, BMJ, 1993
CDs can be prevented or ameliorated
Genetic Services
Health measures to help those
with or at risk of a genetic
disadvantage to live and
reproduc e as normally as
possible. Services inc lude:
• Early, ac c urate diagnosis
• Long-term & antic ipa tory care
• Genetic counselling &
psychosoc ial care
Individual level: meet needs &
reduc e suffering
Population level: prevention to
reduc e burden of disease
“Care is an absolute,
prevention the ideal”
Ma
lherb
e, H., et a
l. (20
16
). Sou
th A
frican
Hea
lth R
eview 2
01
6. D
urb
an
, Hea
lth
Systems Tru
st: 13
7-1
52
.Overview of medical genetic services across healthcare in South AfricaX= service in placeS=service required
Polic y & Legisla tion
• Children’s Act (38 of 2005)• Choice on Termination of Pregnancy Act (92
of 1996)• Constitution of the Republic of South Africa
(Act 108 of 1996)• Health Professions Act (56 of 1974)• Medicines and Related Substances Act (101 of
1965)• Mental Health Care Act (17 of 2002)• Medical Schemes Act (131 of 1998)• National Health Act (61 of 2003)• National Health Insurance (NHI) Policy• National Health Laboratory Service (NHLS) Act
(37 of 2000)• National Public Health Institute of South
Africa (NAPHISA)• Nursing Act (33 of 2005)• Social Assistant Act (13 of 2004)
National Health Ac t (61 of 2003) Sec tion 21:
The Director General of the National
Department of Health must, in
accordance with national health policy,
B) issue and promote adherence to,
norms and standards on health matters
including vii) genetic services
rapid decline in childhood mortality
rate stopped abruptly in 2011...
… future improvements have to come from
improvement in non-HIV causes of death
Adapted from: Dorrington et al 2019. Rapid Mortality Surveillance Report 2017. MRC.
South Africa 2000-2017: Under‐5 Mortality rate (U5MR) & Infant Mortality Rate (IMR) from VR/RMS; Neonatal Mortality Rate (NMR) from VR/DHIS (Adjusted)
Data Deficit
• Nationa l Department of Hea lth
System
• Under-reporting by 98%
• Data reported 2006-2014
• 13 252 CDs notified over 8 years
The Cycle Lack of prioritisation
Neglectedservices
Non-diagnosis& mis-diagnosis
Inadequate data
Underreporting
Underestimate of CD burden
Congenital Disorders
Malherbe et al, South African Health Review 2016
Surveillanc e:What? The ongoing and systematic collection, analysis,
and interpretation of health data essential for public health practice, closely integrated with the timely dissemination of these data to those who need to know.
The final link of the surveillance chain is the application of these data to prevention and control (Centers for Disease Control, 1988).
Light, Wexlar & Heinz, 2004.
Surveillanc e:What? Information ob jec tives of a surveillanc e
system:
• What are you going to collec t and why?
• How are you going to use it?
• You cannot collec t everything!
• Regular & timely system
• Target aud ienc es?
• SMART ob jec tives
• NOT a survey
• NOT a registry
• Surveillance aims to improve the health of
populations
Surveillance: Why?Evidence Based
ApproachInformed Policy
& Research
Targeted
Services/Funding
Policy Making Inertia
Inadequate
Services
Modelling
Lack of Evidence
Research
Surveillance Programmes
1. Defining the objectives (to meet needs) Plannning
(Adapted from Groisman, B. 2018)
Surveillanc e:Where?
National Survaillence
DOH
Tertiary
PHC
NGOsPrimary
Labs
Private Practice
Surveillanc e:How?
Surveillanc e:Who? • Nurses
• Paed iatricians & other spec ialists
• GPs & Med ica l Officers
• Genetic Counsellors
• Laboratory Scientists
• Community Health Care Workers
• Families, care givers & pa tients
• …
This study presenta tion is limited to
the content of the pub lished
paper: Lebese L, Aldous C,
Malherbe H. South African
congenita l disorders da ta , 2006 -
2014. S Afr Med J.
2016;106(10):992-5 in the capac ity
of Helen Malherbe as a co-author
as a Post-Doc toral Research
Fellow at the University of KwaZulu
Nata l, South Africa .
Disclaimer
Context
• 1980: Pilot surveillanc e
• 2001: Nationa l Policy Guidelines
• 2006: Birth Defec ts Notifica tion Tool (BDNT)
• 2016: Descrip tive, retrospec tive study of da ta 2006-2014
Aims
• Incidence and prevalence rates of specific CDs in South Africa
• Determine priorities for intervention• Inform effective planning• Set objectives for prevention and care• Data evaluation and provision of feedback
to provinces, health areas and health districts
Case Definitions
Malherbe et al, South African Health Review 2016
• Down syndrome
• neural tube defects
• albinism
• microcephaly
• isolated cleft lip and/or palate
• isolated hydrocephalus
• club foot
• congenital infections
• genetic deafness
• genetic blindness
• physical handicap
• mental retardation
2001 2006*
• Limited to CDs identifiable/measurable within 24 hours of birth (or later)
• Priority conditions for monitoring:
*National Guidelines for the Care and Prevention of the Most Common Genetic Disorders, Birth Defects and Disabilities
BDNT: Methods
Case ascertainment
MGEP: 729 Trained HCP
Identification code e.g. 001/06
Data quality Analysis, Data
use?
Overview
• Population based
• 24 hours of birth (+)
• Al pregnancy outcomes monitored:
• Livebirths
• Stillbirths
• Terminations
• Miscarriages
• Passive system
• Single source
• Paper-based
• Zero notifications
• Data submitted by range of health care
professionals:
• 729 trained between 2006-2014
• Majority labour ward nurses
• Medical Genetics Education Programme
(MGEP)
• Tailored coding system (non ICD-10
compatible)
YearZero
notifica tions
CDs
reported
Expec ted CD
notifica tions*
Ac tua l
notifica tions as
% of expec ted
2006 77 647 78201 0.83%
2007 109 1 338 79019 1.69%
2008 112 1 449 79914 1.81%
2009 135 1 854 80829 2.29%
2010 89 1 745 81680 2.14%
2011 387 2 401 82349 2.92%
2012 232 2 174 83118 2.62%
2013 119 1032 83821 1.23%
2014 59 612 84460 0.72%
Tota l 1319 13252 733391 1.81%
South Africa 2006 – 2014: reported CDs compared with expected numbers
Lebese et al 2016. S Afr Med J 106(10): 992-995. *Based on modelled/estimated figure of 6.8% of live births affec ted
by CD per annua l number of births (Malherbe et al 2015)
Results
Gauteng12.07%
KwaZulu-Natal54.47%
Eastern Cape5.49%
Western Cape2.50%
North West4.06%
Mpumalanga6.32%
Free State5.61%
Northern Cape5.39%
Limpopo4.08%
South Africa 2006-2014 by province: CD reporting breakdown
Lebese et al 2016. S Afr Med J 106(10): 992-995.
South Africa 2006-2014 by province:
Number of CD notifications
0
200
400
600
800
1000
1200
1400
1600
2006 2007 2008 2009 2010 2011 2012 2013 2014
Nu
mb
er o
f C
D N
oti
fica
tio
ns
Year
Eastern Cape Free State Gauteng Kwa-Zulu Natal Limpopo
Mpumalanga North West Northern Cape Western Cape
Lebese et al 2016. S Afr Med J 106(10): 992-995.
South Africa 2006-2014:
Pregnancy outcomes CD reported by facilities
Live Birth; 86%
Miscarriage; 0%
Still Birth; 6%
Terminations of Pregnancy; 1% Not Recorded;
7%
Lebese et al 2016. S Afr Med J 106(10): 992-995.
South Africa 2006-2014: Number of priority CDs notified (36%)
73
290
344
787
934
1087
1236
0 200 400 600 800 1000 1200 1400
Fetal Alcohol Syndrome
Multiple priority CDs
Albinism
Neural Tube Defects
Cleft lip and/or palate
Talipes Equinovarus
Down syndrome
Cases notified
Pri
ori
ty C
Ds
Other CDs Number %
Named diagnosis 1497 17.63
Abdomen 461 5.43
Arms 88 1.04
Chest 81 0.95
Fac e 464 5.46
Feet 156 1.84
GIT 498 5.86
Genita ls 379 4.46
Hands 1775 20.9
Heart 574 6.76
Legs 391 4.6
Skin 9 0.11
Skull 659 7.77
Urinary System 100 1.18
Multip le Systems/struc ture 1360 16.02
Tota l OCDs 8492
South Africa 2006-2014: Other congenital disorders (OCDs) notified
• OCDs 64% reported CDs
• Only 18% OCDs
diagnosed
• Abnormal body system
reported with description
Lebese et al 2016. S Afr Med J 106(10): 992-995.
Challenges
• Poor data quantity – 98% underreporting• Poor data quality – incomplete, illegible &
late• Erratic compliance by the districts (46/52)• Lack of sustained training• Misdiagnosed/undiagnosed CDs• Lack of/ongoing poor coordination• Single source: excludes private healthcare
sector, labs & other data sets• Autonomous functioning of provinces• Incompatible & incomparable with other
systems (ICD-10)
Current…
• Population based
• Case definition
• Non-ICD 10 compliant
• Passive collection
• Single sourced
• Paper-based
• Optional?
• Ltd update/underrporting
• Low quality data
• No reporting or feedback
• No policy integration
WHO, 2006.
Future…?
• Sentinal sites
• Revised case definition
• ICD 10/11 compliant
• Active collection
• Multi-sourced (labs)
• Electronic & paper
• Mandatory?
• Successful pilots – expand
• Data quality assurance
• Feedback to data providers
• Input into policy
(Boris Groisman, 2018)
Registry • Spec ific , variab le aims
• Timeliness?
• Diversity of formats
• Non-c ompliant
• Legal & ethica l issues (POPI)
• And…
• BUT: Potential data source
• If generic format
• Ethics & legal
•
Collec tions of da ta
related to pa tients,
often spec ific to
d iseases
Registries• NPO Support group registries: e.g. haemophilia, OFCs, c lub foot. Preva lenc e rates for
advoc ac y, awareness, support and fundraising.
• National Cancer Registry: Mandatory reporting/notifiab le disease.
• SA Heart Registry:
• Paediatric Tumour Registry:
• Antiretroviral pregnancy registry: 2 attempts to da te
• EUROCAT: network of population based registries for ep idemiologica l surveillanc e of
congenita l anomalies (1.5 million births in 20 European countries).
The healthc are pra c titioner
• Early identification & accurate
diagnosis
• Be open to zebras…
• Lay expertise?
• Partic ipa tion & ownership in
da ta proc ess
• Research & other da ta?
Targets for 2030:
• End preventab le dea ths of newborns & children under 5 years of age…. Reduc ing neona ta l morta lity to at least as low as 12 per 1,000 live births and under-5 morta lity to at least as low as 25 per 1,000 live births
• Reduc e premature morta lity by one third from NCDs
Acknowledgements
Professor Colleen Aldous, UKZN
Mrs Vuyiswa Lebese, NDOH
Professor Arnold Christianson, WiCE, Wits
Dr Boris Groisman, ICBDSR/RENAC, Argentina