Modelled epidemiological data for selected congenital disorders in South Africa

Malherbe, Helen; Aldous, Colleen; Christianson, Arnold L.; Darlison, Matthew; Modell, Bernadette

doi:10.1007/s12687-021-00513-8

Cited by 6 publications

(7 citation statements)

References 55 publications

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“…This is again within the range quoted for total CD-related birth prevalence globally of between 40 to 80 per 1 000 live births [ 9 ]. The modelled value for SA using 2012 as the reference year published by Malherbe et al was specified as 68 per 1 000 live births [ 21 ]. This suggests the observed birth prevalence of congenital anomalies at EDH is likely to be close to the true value.…”

Section: Discussionmentioning

confidence: 99%

“…This comparison has limitations due to differences in demographics, e. g. year of study (2017 versus 2018) and the population (SA versus KZN facility) and specific indicators vary locally versus nationally. Nevertheless, this comparison may serve to validate the MGDb modelling approach, including results via the SA application [ 21 ] for the key congenital anomalies at sites that lack the ability or resources to conduct routine surveillance or research.…”

Section: Discussionmentioning

confidence: 99%

“…Statistical analysis was undertaken to compare birth prevalence rates for selected congenital anomalies observed with modelled birth prevalence rates for SA published previously [ 3 , 21 ]. Differences between these birth prevalence rates ( p -values) were calculated using Chi - squared statistical test and confidence intervals were calculated with the “test-based method” [ 22 ] using the SciStat online calculator ( www.scistat.com ).…”

Section: Methodsmentioning

confidence: 99%

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Observed birth prevalence of congenital anomalies among live births at a regional facility in KwaZulu Natal Province, South Africa

et al. 2021

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Congenital disorders (CDs), defined as abnormalities in structure or function present at birth, are an important contributor to the disease burden in developing countries. The size and extent of the problem in South Africa (SA) are unknown due to the lack of recent, reliable, observed data on CDs. To address this empirical data gap, this study aimed to measure the birth prevalence of congenital anomalies (a sub-set of CDs) and to describe the pattern of these anomalies at a regional hospital in KwaZulu Natal (KZN), SA. A retrospective, observational, descriptive review of congenital anomalies diagnosed within the neonatal service at Edendale Hospital (EDH), KZN was undertaken between January and December 2018. All EDH in-house live births diagnosed and notified with congenital anomalies by discharge were included. Stillbirths, other pregnancy losses and out-born neonates were excluded. Data were actively collected from the birth register, neonatal admission register, and the individual paper-based surveillance tool developed by the National Department of Health. The in-facility birth prevalence rate for congenital anomalies was 15.57 per 1 000 live births. The most observed system was musculoskeletal (32%) followed by circulatory system anomalies (19%). When the observed birth prevalence rates of key congenital anomalies were compared with previously published, modelled South African data, no significant difference was found. This study responds to the paucity of birth prevalence data on CDs overall and offers evidence that obvious, structural CDs (congenital anomalies) need to be addressed in the SA public health system.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Observed birth prevalence of congenital anomalies among live births at a regional facility in KwaZulu Natal Province, South Africa

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“…Modelled estimates for all countries were first developed in 2006 by the March of Dimes in a collaboration with the WHO 6. More recently, estimates of the under-5 mortality due to birth defects based on the European Surveillance of Congenital Anomalies were developed and have been iteratively adapted for specific settings 7–9. In addition, the Global Burden of Disease (GBD) study from the Institute of Health Metrics and Evaluation has recently developed estimates for under-5 mortality due to birth defects 10…”

Section: Introductionmentioning

confidence: 99%

Systematic estimates of the global, regional and national under-5 mortality burden attributable to birth defects in 2000–2019: a summary of findings from the 2020 WHO estimates

et al. 2023

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ObjectivesTo examine the potential for bias in the estimate of under-5 mortality due to birth defects recently produced by the WHO and the Maternal and Child Epidemiology Estimation research group.DesignSystematic analysis.MethodsWe examined the estimated number of under-5 deaths due to birth defects, the birth defect specific under-5 mortality rate, and the per cent of under-5 mortality due to birth defects, by geographic region, national income and under-5 mortality rate for three age groups from 2000 to 2019.ResultsThe under-5 deaths per 1000 live births from birth defects fell from 3.4 (95% uncertainty interval (UI) 3.1–3.8) in 2000 to 2.9 (UI 2.6–3.3) in 2019. The per cent of all under-5 mortality attributable to birth defects increased from 4.6% (UI 4.1%–5.1%) in 2000 to 7.6% (UI 6.9%–8.6%) in 2019. There is significant variability in mortality due to birth defects by national income level. In 2019, the under-5 mortality rate due to birth defects was less in high-income countries than in low-income and middle-income countries, 1.3 (UI 1.2–1.3) and 3.0 (UI 2.8–3.4) per 1000 live births, respectively. These mortality rates correspond to 27.7% (UI 26.6%–28.8%) of all under-5 mortality in high-income countries being due to birth defects, and 7.4% (UI 6.7%–8.2%) in low-income and middle-income countries.ConclusionsWhile the under-5 mortality due to birth defects is declining, the per cent of under-5 mortality attributable to birth defects has increased, with significant variability across regions globally. The estimates in low-income and middle-income countries are likely underestimated due to the nature of the WHO estimates, which are based in part on verbal autopsy studies and should be taken as a minimum estimate. Given these limitations, comprehensive and systematic estimates of the mortality burden due to birth defects are needed to estimate the actual burden.

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“…The term "constitutional" has been replaced by "endogenous" in a recent application of the MGDb in South Africa(Malherbe et al 2021) with regard to conditions with a genetic/partially genetic aetiology and may be more preferable for future use.…”

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A review of key terminology and definitions used for birth defects globally

et al. 2023

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Birth defects, also known as congenital disorders, are a significant health issue impacting at least five million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those affected, the burden of disease of these conditions must be quantified. Estimates of the contribution of birth defects to under-5 child mortality and morbidity are generated by several groups globally. These estimates often differ, causing confusion for policymakers. While some differences may be attributed to the data sources and methods used, much is due to a lack of clarity in the terminology used for the group of disorders classed as “congenital”. This study aimed to gain insight into the diversity of terms and definitions for birth defects, including those used routinely by relevant international/national organisations and in the peer-reviewed literature. This two-part study included (1) scoping review of peer-reviewed literature to identify terms and definitions in use for birth defects and (2) review of key websites and grey literature to identify terms and definitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefined, in peer-reviewed publications, on institutional websites and related literature. This suggests a lack of clarity related to terminology and sets the scene for further discussion, recommending that the community of practice working on birth defects comes to a consensus on standard terminology and definitions for global uptake and implementation. Such standardisation will facilitate a common understanding of the burden of these disorders globally, regionally and within countries so that action can be taken to support affected children and their families.

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Modelled epidemiological data for selected congenital disorders in South Africa

Cited by 6 publications

References 55 publications

Observed birth prevalence of congenital anomalies among live births at a regional facility in KwaZulu Natal Province, South Africa

Observed birth prevalence of congenital anomalies among live births at a regional facility in KwaZulu Natal Province, South Africa

Systematic estimates of the global, regional and national under-5 mortality burden attributable to birth defects in 2000–2019: a summary of findings from the 2020 WHO estimates

A review of key terminology and definitions used for birth defects globally

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