Situational analysis of the surveillance of birth defects in the Eastern Mediterranean region

Despite significant progress made in achieving the Millennium Development Goal 4, reducing child mortality by two-thirds by 2015, the success was not global.1 Accordingly, ending preventable newborn and child death remains an unfinished agenda and a main component of the Sustainable Development Goal 3 on good health and wellbeing.2,3 Birth defects (BD), a global public health concern, has been contributing over the years to a greater proportion of infant and childhood mortality, and has been ranked as a leading cause of mortality under the age of 5 years.4 The March of Dimes foundation published in 2006 the first report providing global BD prevalence estimates, thus permitting broad comparison of specific BD across countries.5 The modelled estimates were based on the ‘best statistics available’ method, derived from extrapolation of pooled data from a variety of sources. Those include: birth prevalence rates of selected BD in populations of northern European origin; global data on carrier rates for common recessive conditions; data on national prevalence rates of pregnant women of advanced maternal age; national rates of consanguinity; and national demographic profiles.5 These estimates showed that the prevalence of all genetic BD combined ranged from 40 to 82 per 1000 live births worldwide. Countries of the Eastern Mediterranean Region (EMR) lie on the high end of this range, with Sudan recording the highest prevalence at 82 per 1000 live births. Among the 10 countries with the highest estimates of BD prevalence, seven belonged to the EMR region. Similarly, 15 of the 20 countries with the highest estimates of BD prevalence were EMR countries. Whereas generally the highest BD prevalence rates are found among the world’s poorest countries and lowest rates are found among the world’s wealthiest countries, the exceptions are countries where recessive disorders and marriages between first cousins and other close relatives are common, as is the case in the EMR.5 Following the March of Dimes’ global BD prevalence estimates report, health ministers and World Health Organization (WHO) senior health officials of the Sixty-Third World Health Assembly (May 2010) adapted a ‘BD resolution’ to help direct attention to BD, an overlooked global health issue especially in low- and middle-income countries. The resolution called on member states to prevent BD, implement screening programmes and provide ongoing support and care to children with BD and their families.6 To prevent the occurrence of BD and raise awareness, countries need to gain a better understanding of the burden and risks associated with BD. An accurate population-based birth defect surveillance programme (BDSP) ultimately aims to prevent BD and their complications. This can be achieved through monitoring prevalence trends of different types of BD, detecting clusters and providing basis for epidemiological research and developing prevention programmes and appropriate services, in addition to disseminating findings to local and international partner organizations. A BDSP is defined as the ongoing, systematic collection, analysis and interpretation of BD data for public health purposes, and the timely dissemination of public health information for assessment and public health response to reduce morbidity and mortality.7 The necessity of BDSP in management of BD has already been acknowledged and implemented in countries such as the USA and Canada and by regions globally.8,9 The European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT) has been collecting national and subnational BD data since 1979.10,11 It currently covers 1.7 million births per year (29% of births in Europe) from 21 countries in Europe.12 Countries with individual efforts to establish a BDSP can be seen globally. A similar network is found in southern America, the Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (Latin American Collaborative Study of Congenital Malformations) (ECLAMC) established in 1967, which collects BD data from 261 hospitals from 12 countries in South America.13 Following the Sixty-Third World Health Assembly, and due to the absence of epidemiological data concerning incidence and burden of birth defects among several WHO regions, attention was directed to implementation of BD surveillance programmes.14,15 The WHO Regional Office for South-East Asia, in collaboration with the Centers for Disease Control and Prevention (CDC), developed a regional strategic framework for prevention and control of birth defects in 2013.15–17 In 2014 they created an online perinatal surveillance database (SEAR-NBBD) which currently collects data from 221 registered hospitals in nine countries.17 Concurrently, the CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDDD) developed and implemented an online and in-person surveillance workshop between December 2014 and March 2015 for representatives from six African countries who were actively planning a BDSP.18 In July 2016, the World Health Organization Regional Office for the Eastern Mediterranean Region (WHO-EMRO), held an expert meeting in London on the prevention of Congenital and Genetic Disorders (CGDs) in the EMR. WHO-EMRO affirmed its position to improve the CGDs situation in the region through supporting member states in conducting situation analysis, identifying gaps related to health services and establishing a system for regular data collection.19 Given the importance of surveillance and the scarcity of information about this subject in the Eastern Mediterranean Region, WHO-EMRO commissioned the National Collaborative Perinatal Neonatal Network (NCPNN) in April 2017 to carry a situational analysis to assess and evaluate the existence and extent of BDSP in each of the 22 EMR countries. This situational analysis will serve as a base for WHO-EMRO’s future interventions to optimize BDSP in the region. Mapping of BDSPs in the region was conducted in two phases, a comprehensive literature review and a country situational assessment questionnaire. A literature search was conducted reporting resources published up until April 2017, using various sources. Websites of Ministries of Health (MOH) of the 22 EMR countries were searched for information on BDSP. Additionally, PubMed, Google Scholar and the WHO website via the Index Medicus for the EMR database were reviewed for studies as well as global and regional reports in English. The BD search terminologies used included BD, congenital malformations, deformations and anomalies. Any reference mentioning BD data in the region was included as no exclusion criteria were set. Additionally, global reports1,5,20,–23 were used to provide an overview of the maternal and child health situation for each country through reporting demographic and health indicators. The literature review showed that Bahrain, Iran, Lebanon, Oman and United Arab Emirates (UAE) have a national BDSP and the remaining 17 countries lacked a BDSP. During the period of data collection, the Lebanese MOH website mentioned the BDSP through a brief description and listing of their questionnaire and yearly reports. Following redesign of the Lebanese MOH website, yearly BD data are being reported as part of their ‘Vital Data Observatory Statistics’.24 The Iranian MOH website does not mention their BDSP; however, the website of Tabriz Registry of Congenital Anomalies provides detailed information on the programme’s initiation and aim.25 No studies on BD in Djibouti and Somalia were found in the literature, and only a single study to each of Afghanistan, Jordan, Kuwait, Libya and Yemen were available. The only published article from Afghanistan is a prospective study from 1982 examining BD among live births in a hospital in Kabul, reporting an overall BD incidence rate of 5.5% with musculoskeletal defects being the most common.26 One study from Jordan reports the incidence of neural tube defects at 6.5 per 1000 live births, based on retrospective analysis of all live-born babies admitted to the King Hussein Medical Centre neonatal unit between April 2002 and April 2003.27 The literature also revealed that the Ministry of Health in Kuwait publishes a statistical yearbook including data on the number of visits to the genetic centre, due to congenital anomalies. In the 2014 yearbook, 2.1% of visits were due to BD.28 In Libya, a descriptive hospital-based study conducted in Benghazi in 1995 reports a BD incidence rate of 7.4 per 1000 live births. The majority of reported anomalies are chromosomal, musculoskeletal and central nervous system.29 Similarly, the literature describes a retrospective study in a hospital in Sanaa’, reporting a 2.1% BD prevalence in the period between 1997 and 2001.30 Several studies and reports address the incidence of BDs from Egypt, Occupied Palestinian territory, Pakistan, Saudi Arabia and Syria. The most recent studies include a 2011 prospective hospitalbased study in Egypt, reporting a 2.5% incidence rate of BD, with the highest rate associated with those affecting the musculoskeletal system.31 The authors, however, note that this rate underestimates the true rate since some BD could not be diagnosed at birth. In the Occupied Palestinian territory, the 2015 Health Annual Report, reveals that 3.9% of all deaths and 12.4% of all infant deaths in the West Bank are due to BD.32 The prevalence of BD in Pakistan is reported by several studies: a prospective cohort study in Lahore following children from different socioeconomic backgrounds from birth till 12 years of age reports the overall BD incidence to be 5.6%, varying between 3.0% in the upper-middle class group and 7.0% in the peri-urban group.33 In Saudi Arabia, the prevalence of BD is examined through hospital-based studies and the prevalence ranges from 27.1 to 41.1/1000 total births.34,–36 According to the morbidity and mortality report issued by the Syrian Ministry of Health in 2014, BD account for 2.4% of all deaths.37 Despite being published after our literature review was conducted, it should be noted that a journal article on the uses, limitations and validity of Iran’s BDSP was published in July 2017.38 The Tabriz Registry of Congenital Anomalies report an increase in BD prevalence from 10.4 to 32.6 per 1000 births between 2000 and 2014, with an overall prevalence of 22.4/ 1000 live births over the past 15 years.38 The Country Situational Assessment Questionnaire (CSAQ) was developed by the NCPNN in direct collaboration with and feedback from WHO-EMRO, and underwent several phases of refinement to comprehensively assess the existence of birth defects surveillance programmes, methodology used, types of BD collected and key barriers to establishing and strengthening BDSPs (Supplementary Appendix 1, available as Supplementary data at IJE online). WHO-EMRO disseminated the approved CSAQ to WHO Country Offices of the 22 EMR countries in April of 2017, to facilitate the collection of required data from Ministries of Health and to ensure a high response rate. Responses of 19 countries were received by WHO EMRO from April till June 30, 2017. The CSAQ revealed that Bahrain, Iran, Iraq, Lebanon, Morocco, Oman, Qatar, Sudan, Tunisia and UAE have surveillance programmes as reported in Table 1, which compares BDSPs identified by literature review and CSAQ. Comprehensive national BDSPs, collecting data on all types of major ICD-10 codes BD as reported in the CSAQ, were identified in Bahrain, Iran, Lebanon and Oman (Table 2). Oman is the first country in the EMR to establish a national BDSP reporting all BDs in the year 2000. Their reporting system is active and includes termination of pregnancy and stillbirths, and is not limited to the age of the child. On the other hand, Bahrain’s active BDSP, established in 2009, does not report termination of pregnancy and stillbirths and includes cases up till 1 month of age. In 2012, both Iran and Lebanon developed a national BDSP that includes termination of pregnancy and stillbirths. However, Iran’s BDSP is passive and includes cases up till 1 month of age, whereas Lebanon’s BDSP is active and includes cases up to 1 year of age. Eastern Mediterranean Region countries by level of birth defect surveillance based on literature review and Country Situational Assessment Questionnaire Published in July 2017. BDSP, Birth Defect Surveillance Programmes; UAE, United Arab Emirates. Birth defects surveillance programmes identified by Country Situational Assessment Questionnaire MOH, Ministry of Health; UAE, United Arab Emirates. Another country reporting a national BDSP is Morocco, but its programme is restricted to oro-facial clefts and central nervous system defects. This active notification system was implemented as part of the monitoring and evaluation system of the national programme for flour fortification with iron and folic acid (Table 2). Iraq, Qatar, Sudan, Tunisia and UAE report having subnational surveillance, limited to certain areas or hospitals as detailed in Table 2. Some countries, such as the Occupied Palestinian Territory and Somaliland, report collection of BD information through their routine health information system despite the absence of BDSP. Both countries report lack of funding, infrastructure and trained human resources as the main obstacles hindering establishment of BDSP. Data on barriers to establishing or strengthening BD surveillance were collected using the CSAQ and were divided into three categories. The first barrier includes gaps in the health information system, such as under-reporting, poor data on stillbirths/abortions, incomplete health management information systems and absence of links between databases and dedicated BD registries. The second reported barrier is the limited resources including human resources (need for capacity building), infrastructure for surveillance set-up and funding. The third barrier currently faced by some countries including Syria, Yemen, Iraq and Libya, is conflict and political instability. This has significantly limited the health care system’s abilities and has resulted in a shift of priorities. This is the first situational analysis performed in the EMR on the existence and extent of health surveillance programmes pertaining to BD, a leading cause of morbidity and mortality in the EMR. A gap has been identified between the available information obtained from the literature and official websites, and the information provided from the CSAQ by each country. The situational analysis reveals that BDSPs in 19 of the 22 EMR countries are in different phases of development. More than half the region (55%) lacks BDSPs and most available data on BD are collected from hospital-based studies in limited geographical areas rather than surveillance systems or population-based studies. This analysis served as a tool to identify large gaps in data collection and highlight international differences in terms of quality and methodology of current BDSPs. The EMR represents a wide spectrum of countries which differ based on population size, gross domestic product (GDP) and country income levels, as well as demographic and health indicator levels. Supplementary Table S1, available as Supplementary data at IJE online, represents a selection of demographic and health indicators among the 22 EMR countries.5,20,–23,39 Population size in the EMR ranges from 900 000 in Djibouti to 192 827 000 in Pakistan. This discrepancy in population size is also reflected in maternal and newborn health indicators. One example is the percentage of births attended by skilled health professionals, ranging between 23.1% in Sudan and more than 90.0% in approximately 60% of the EMR countries. Similarly, maternal mortality rates (MMRs) range between 4.0 per 100 000 live births in Kuwait and 732.0 per 100 000 in Somalia, and under-5 mortality rates range from 137.0 per 1000 in Somalia to 6.0 per 1000 in Bahrain. However, when assessing the contribution of BD to under-5 mortality, the percentage contribution ranges between 3.7% in Somalia and 28.0% in the UAE. The low rate of BD contribution to under-5 mortality in Somalia, Djibouti, Pakistan, Sudan and Yemen, among others, is attributed to both the problem of communicable diseases in these countries and the lack of adequate BDSPs capable of capturing BD-related deaths.40–44 The gap in BD surveillance programmes has consequently caused BD to receive little attention from a vast majority of the EMR countries, due to the lack of information on BD burden and contribution to mortality, morbidity and lifelong disabilities—despite being one of the leading causes of childhood mortality. As such, the Sustainable Development Goal target 3.2, that aims to end preventable deaths of newborns (to at least 12.0 per 1000 live births) and children under 5 years of age (to at least 25.0 per 1000 live births), cannot be attained by 2030 without targeting BD.45 The present situational analysis constitutes an urgent call to develop and establish BDSPs. An integrated approach is needed to set up BDSPs, starting from governmental involvement in terms of decision making and resource commitment and use, academic knowledge and support, guidance from international agencies, collaboration with health care service professional groups and resources such as WHO’s Birth Defects Surveillance: A Manual for Programme Managers which is designed to help plan, implement and evaluate a BD surveillance programme.7 Since a BDSP’s health outcomes may not be evident for many years, it is important to provide timely and up-to-date feedback to the programme’s stakeholders, especially funders and services contributing to the BDSP such as medical profession, health care planners and hospitals.46 Recommendations for countries to establish BD surveillance or expand their surveillance are country- and setting-specific and require expert assessment based on current available infrastructure and human resources, in addition to the objective and goals each country wants to attain. Accordingly, WHO-EMRO supports countries that seek regional experts to plan a BDSP and provide the needed expertise in capacity building to facilitate development and expansion. Building on the experiences of other countries in the region and globally in terms of surveillance and data collection infrastructure materials, including BD manuals and collection sheets and implementation difficulties and solutions, is vital in achieving a functional BDSP with few complications in countries with limited resources. Moreover, learning from the experience of other regions and developing a regional network of institutions such as EUROCAT, ECLAMC and SEAR-NBBD, can provide a current alternative to national BDSPs to provide BD data in countries with overwhelming burdens that delay establishing a national BDSP.10,13,17 It is recommended that countries with BDSPs enhance the visibility of their surveillance by publishing online reports describing methodology used and analysis of BD prevalence, types and outcome status. Moreover, maintaining updated public information is necessary to achieve proper reporting. For example, the literature search showed that the UAE has a national BDSP,47 but the CSQA revealed that the UAE has a subnational BDSP as described in Table 2. In conclusion, strengthening maternal and child health is urgently needed in some countries with the highest MMR and under-5 mortality rate such as Somalia, Afghanistan, Pakistan, Sudan, Djibouti and Yemen. With the decrease in infant mortality due to communicable diseases, the contribution of BD to mortality has increased. In this era of global health, there is a real opportunity for the EMR to develop collaborative programme(s) to build capacity and share knowledge, consisting of committed governments and academic bodies and led by WHO-EMRO, to establish the needed BD surveillance programmes and combine them with established ones to create a common BD database for the region. Supplementary data are available at IJE online. This study was supported by World Health Organization Regional Office for the Eastern Mediterranean under The the support and of the WHO Country Offices and Ministries of Health of the 22 EMR countries in the Country Situational Assessment

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