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

Perin, Jamie; Cara, T.; Costa, Ayesha De; Strong, Kathleen; Diaz, Theresa; Blencowe, Hannah; Berry, R. J.; Williams, Jennifer L.; Liu, Li

doi:10.1136/bmjopen-2022-067033

Cited by 15 publications

(9 citation statements)

References 27 publications

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“…In Africa, the percentage of all under-5 mortality attributable to CMs rose from 4.6% in 2000 to 7.6% in 2019. [ 16 ]. Thus, CMs significantly reduces survival and causes various types of disability [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

Congenital Malformations in the Moroccan Surveillance System: Contribution to Prevalence Estimation

Kannane,

Boussaa,

Mendili

et al. 2024

Global Health, Epidemiology and Genomics

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Background. Congenital malformations (CMs) are a group of structural or functional anomalies present at birth. These anomalies result in a high rate of mortality, morbidity, and disability in children. CMs are a major public health problem and place a heavy burden on healthcare systems in both developed and developing countries including Morocco, which has had a CMs surveillance system in place since 2011. The aim of this study is to determine the prevalence of CMs in Morocco. Methods. In this study, the epidemiology of CMs in Morocco was assessed retrospectively using the national surveillance system data gathered from case notification forms from 2017 to 2021. Results. The main results showed that the prevalence of CMs in Morocco is 3.91/1000 live births (LBs), and the minimum annual prevalence of CMs was reached in 2017 (3.10/1000 LBs) while the maximum annual prevalence was recorded in 2018 (4.55/1000 LBs). The majority of CMs are unspecified CMs (68.55%), neural tube defects (NTDs) account for (21.13%), and orofacial clefts (OFCs) account for (10.32%). In addition, the majority of CMs (61.73%) were from rural areas. According to region, the Dakhla-Oued Eddahab region recorded the highest prevalence of CMs in Morocco, with 8.81/1000 LBs, while the lowest prevalence was recorded in the Rabat-Sale-Kenitra region, with 2.02/1000 LB. Conclusions. This study reveals that the national prevalence of CMs is high and may be underestimated, as most of the CMS reported is unspecified. The use of a CM registry with detailed reporting of all CMs and the promotion of preventive measures are urgently recommended.

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Section: Discussionmentioning

confidence: 99%

Congenital Malformations in the Moroccan Surveillance System: Contribution to Prevalence Estimation

Kannane,

Boussaa,

Mendili

et al. 2024

Global Health, Epidemiology and Genomics

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“…While significant reductions in child mortality have been achieved through targeted health interventions (e.g., PMTCT for HIV, expanded programme of immunisation, improved maternity care, etc. ), improvements to the IMR and U5MR have slowed since 2011 [37] , highlighting the need to address other health issues [34,38,39] . In SA, as seen globally, the number and rate of CDs are estimated to be decreasing, but the proportion of CD-related deaths is increasing [40] .…”

Section: Overview Of South Africamentioning

confidence: 99%

Newborn screening in South Africa: the past, present, and plans for the future

Malherbe,

Bonham,

Carrihill

et al. 2024

Rare Dis Orphan Drugs J

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Worldwide, comprehensive newborn screening (NBS) now includes a clinical examination at birth, hearing screening, pulse oximetry measurement for congenital heart defects, and biochemical screening to identify congenital disorders early in life, preventing irreversible damage, early mortality and enhancing overall health outcomes. This article provides a comprehensive overview of biochemical NBS in South Africa, outlining the history, current status, and future plans for NBS expansion. In South Africa, NBS is fragmented, with some investigations included in neonatal health assessments. Historically, biochemical NBS pilot projects in the country in the 1960s and 1980s focused on phenylketonuria and congenital hypothyroidism (CH). Despite showing initial promise, these programmes were discontinued, largely due to competing health priorities. The current status of biochemical NBS in South Africa is discussed, both for the state and private healthcare sectors, which collectively screen approximately 0.5% of births annually. While recent clinical guidelines provide for a national biochemical NBS programme, implementation has been limited, and guideline adherence remains a challenge. A brief report of a two-day meeting held in Cape Town in February 2023 focusing on biochemical NBS for South Africa is provided. The meeting addressed the importance of NBS, technology requirements, and the need for a comprehensive demonstration project for biochemical CH NBS. Key challenges identified included early newborn post-delivery discharge, technical, logistical, and infrastructure issues, as well as limited financial and human resources. Meeting recommendations included the establishment of a National Advisory Panel for Biochemical NBS, and the development and implementation of a demonstration project for CH biochemical NBS in two provinces.

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“…The leading causes of birth defects globally are congenital heart anomalies and neural tube defects [ 3 ]. These two preventable and/or treatable conditions account for over half of all neonatal deaths due to birth defects [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Action against birth defects: if not now, when?

Strong,

Robb-McCord,

Walani

et al. 2024

Global Health Action

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Background More children are surviving through interventions to address the infectious causes of under-5 mortality; subsequently, the proportion of deaths caused by birth defects is increasing. Prevention, diagnosis, treatment and care interventions for birth defects are available but are needed where the burden is highest, low-and-middle-income countries. Objectives A selection of birth defect focused publications, conferences, and World Health Assembly resolutions from 2000 to 2017 show that global efforts were made to raise the profile of birth defects in global public health. However, recent donor support and national government interest has waned. Without concerted global action to improve primary prevention and care for children born with birth defects, the Sustainable Development Goal targets for child survival will not be met. Results Birth defects make up 8% and 10% of global under-5 and neonatal deaths respectively, making them significant contributors to preventable loss of life for children. Survivors face long-term morbidity and lifelong disability which compounds the health and economic woes of individuals, families, communities and society as a whole. Demographic changes in sub-Saharan Africa portend a growing number of births with 1.6 billion projected from 2021 to 2050. More births and better survival without effective prevention and treatment for birth defects translates into more mortality and disability from birth defects. Conclusions We recommend interventions for prevention of birth defects. These are evidenced-based and affordable, but require low- and middle-income countries to strengthened their health systems. Action against birth defects now will prevent premature deaths and long-term disability, and lead to stronger, more resilient health systems.

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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

Cited by 15 publications

References 27 publications

Congenital Malformations in the Moroccan Surveillance System: Contribution to Prevalence Estimation

Congenital Malformations in the Moroccan Surveillance System: Contribution to Prevalence Estimation

Newborn screening in South Africa: the past, present, and plans for the future

Action against birth defects: if not now, when?

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