Neonatology

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Birth defects

Africa

• BMJ Paediatrics Open
  • Congenital anomalies and risk factors in Africa: a systematic review and meta-analysis [2023]

• Scientific World Journal
  • Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses [2022]

Arab countries

• Eastern Mediterranean Health Journal
  • A critical review of the prevalence of cleft lip and cleft palate in Arab countries [2025]

Argentina

• Archivos argentinos de pediatría
  • RENAC: National Registry of Congenital Anomalies of Argentina [2013]

• Journal of Community Genetics
  • Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level [2021]

Australia

• Australian Institute of Health and Welfare
  • Congenital anomalies in Australia

• WA Health
  • Pierre Robin Sequence
  • Gastroschisis
  • Exomphalos (Omphalocele)
  • Congenital Hemivertebrae
  • Achondroplasia

Australia, New Zealand

• Genetics in Medicine
  • Estimation of the number of people with Down syndrome in Australia and New Zealand [2022]

Bhutan

• BMC Oral Health
  • Epidemiology of cleft lip and palate in Bhutan, 2015-2022 [2024]

Brazil

• BMC Pregnancy and Childbirth
  • Maternal and gestational factors associated with congenital anomalies among live births: a nationwide population-based study in Brazil from 2012 to 2020 [2025]

• Ciência & Saúde Coletiva
  • Temporal trends in prevalence and infant mortality of birth defects in Brazil, from 2001 to 2018 [2023]

• International Journal of Environmental Research and Public Health
  • Nationwide Spatial Patterns and Maternal and Birth-Related Factors Associated with Orofacial Clefts in Brazil [2025]

• PLoS ONE
  • Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020 [2025]

• Revista Paulista de Pediatria
  • Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study [2023]

• Sao Paulo Medical Journal
  • Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study [2024]

Canada

• Archives of Disease in Childhood. Fetal and Neonatal Edition
  • Diagnosis and management of congenital diaphragmatic hernia: a 2023 update from the Canadian Congenital Diaphragmatic Hernia Collaborative [2024]

• CMAJ
  • Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline [2018]

• Government of Alberta
  • Alberta congenital anomalies surveillance system

• Ontario Health
  • Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment [2020]

• Public Health Agency of Canada
  • Congenital Anomalies in Canada 2013: A Perinatal Health Surveillance Report by the Public Health Agency of Canada’s Canadian Perinatal Surveillance System [2015]
  • Congenital Anomalies in Canada

China

• Birth Defects Research
  • Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study [2025]

• BMC Pediatrics
  • Descriptive epidemiology of gastroschisis in China from 2007 to 2020: a nationwide surveillance-based study [2024]

• BMC Pregnancy and Childbirth
  • The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study [2023]

• China CDC Weekly
  • Prevention and Control of Birth Defects in China: Achievements and Challenges [2021]

• Frontiers in Public Health
  • Down syndrome burden in China and globally: a comparative analysis of 1990-2021 trends and future projections based on GBD 2021 database [2025]

• World Journal of Pediatrics
  • Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021 [2024]
  • Epidemiology of congenital diaphragmatic hernia among 24 million Chinese births: a hospital-based surveillance study [2024]

Colombia

• Journal of Maternal-Fetal & Neonatal Medicine
  • Trends and characteristics of fetal and neonatal mortality due to congenital anomalies, Colombia 1999–2008 [2018]

Denmark

• Clinical Epidemiology
  • Congenital Malformations in Denmark: Considerations for the Use of Danish Health Care Registries [2020]

• Frontiers in Pediatrics
  • Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark [2021]

• Pediatric Surgery International
  • Omphalocele prevalence and co-occurring malformations: a nationwide register-based study of Danish live births in 1997-2021 [2025]

Developing countries

• Frontiers in Pediatrics
  • Birth Defects Registries in the Genomics Era: Challenges and Opportunities for Developing Countries [2014]

Estonia

• Journal of Maternal-Fetal & Neonatal Medicine
  • The prevalence of congenital anomalies: nationwide study in 2020 in Estonia [2023]

Ethiopia

• PLoS ONE
  • Prevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis [2024]
  • Structural congenital anomalies in resource limited setting, 2023: A systematic review and meta-analysis [2023]

Europe

• Archives of Disease in Childhood. Fetal and Neonatal Edition
  • Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data [2018]

• EUROCAT
  • Recommendations for Improving Surveillance of Congenital Anomalies in Europe Using Healthcare Databases [2025]
  • Updated EUROCAT guidelines for classification of cases with congenital anomalies [2024]
  • Surveillance of multiple congenital anomalies; searching for new associations [2024]
  • Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study [2024]
  • Higher risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury and child abuse in children with congenital anomalies: Data from the EUROlinkCAT study [2024]
  • Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies-A Population-Based Data Linkage Study [2023]
  • Ethics and legal requirements for data linkage in 14 European countries for children with congenital anomalies [2023]
  • Creating a population-based cohort of children born with and without congenital anomalies using birth data matched to hospital discharge databases in 11 European regions: Assessment of linkage success and data quality [2023]
  • Accuracy of congenital anomaly coding in live birth children recorded in European health care databases, a EUROlinkCAT study [2023]
  • Ten-Year Survival of Children With Congenital Anomalies: A European Cohort Study [2022]
  • Temporal and geographical variations in survival of children born with congenital anomalies in Europe: A multi-registry cohort study [2022]
  • Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries [2022]
  • Information needs of parents of children with congenital anomalies across Europe: a EUROlinkCAT survey [2022]
  • Hospital length of stay among children with and without congenital anomalies across 11 European regions-A population-based data linkage study [2022]
  • Gastrostomy and congenital anomalies: a European population-based study [2022]
  • Linking a European cohort of children born with congenital anomalies to vital statistics and mortality records: A EUROlinkCAT study [2021]
  • EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies [2021]
  • Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators [2020]
  • Publications
  • Prevalence charts and tables

• PLoS ONE
  • Trends in congenital anomalies in Europe from 1980 to 2012 [2018]

• WHO European Region
  • Number of births with congenital anomalies
  • Congenital anomalies per 100 000 live births

France

• Journal of Epidemiology and Population Health
  • Contribution of nationwide medico administrative data on congenital anomalies in France: Validation study on congenital diaphragmatic hernia [2025]

Germany

• Deutsches Ärzteblatt International
  • Clinical Practice Guideline: The Treatment of Cleft Lip and Palate Deformities [2025]

Gulf Cooperation Council

• BMJ Open
  • Epidemiology of congenital anomalies in the Gulf Cooperation Council countries: a scoping review [2025]

India

• BMC Pediatrics
  • A national estimate of the birth prevalence of congenital anomalies in India: systematic review and meta-analysis [2018]

• Indian Academy of Pediatrics
  • Cleft Lip and Palate [2022]

International

• Acta Obstetricia et Gynecologica Scandinavica
  • Congenital anomalies and maternal age: A systematic review and meta-analysis of observational studies [2022]

• American Journal of Obstetrics & Gynecology
  • Very young and advanced maternal age strongly elevates the occurrence of nonchromosomal congenital anomalies: a systematic review and meta-analysis of population-based studies [2024]

• Annals of Medicine
  • Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021 [2025]

• BioScience Trends
  • Association of the national level of human development with the incidence and mortality of congenital birth defects in 2019: A cross-sectional study from 189 countries [2024]

• BMC Pregnancy and Childbirth
  • Trends in burden and mortality of congenital birth defects in G20 countries (1990-2021) and predictions for 2022-2040 [2025]
  • Global, regional, and national epidemiology of congenital birth defects in children from 1990 to 2021: a cross-sectional study [2025]

• BMC Public Health
  • Global birth prevalence of major congenital anomalies: a systematic review and meta-analysis [2025]

• BMJ Open
  • Burden of digestive congenital anomalies among children aged 0-14 years in 204 countries and territories, 1990-2021: results from the Global Burden of Disease Study 2021 [2024]
  • 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 [2023]

• British Journal of Dermatology
  • Management of congenital ichthyoses: guidelines of care: Part two: 2024 update [2025]
  • Management of congenital ichthyoses: guidelines of care: Part one: 2024 update [2025]

• DEBRA International
  • Neonatal epidermolysis bullosa: a clinical practice guideline [2024]

• Global Birth Defects
  • Global Birth Defects

• International Clearinghouse for Birth Defects Surveillance and Research
  • Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017 [2024]
  • A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974-2014 [2023]
  • Resources

• International Journal for Equity in Health
  • Emerging trends and cross-country health inequalities in congenital birth defects: insights from the GBD 2021 study [2025]

• Journal of Community Genetics
  • Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide [2018]

• Journal of Korean Medical Science
  • Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses [2021]

• Scientific Reports
  • Systematic review and meta-analysis of the association between young maternal age and fetal abnormalities [2024]

• Society for Cardiothoracic Surgery in Great Britain and Ireland
  • The pectus care guidelines: best practice consensus guidelines from the joint specialist societies SCTS/MF/CWIG/BOA/BAPS for the treatment of patients with pectus abnormalities [2024]

• Vaccine
  • Congenital anomalies: Case definition and guidelines for data collection, analysis, and presentation of immunization safety data [2016]

Iran

• Archives of Iranian Medicine
  • Prevalence of Congenital Anomalies in Iran [2024]

• Iranian Journal of Public Health
  • Prevalence of Congenital Anomalies in Iran: A Review Article [2017]

Japan

• Birth Defects Research
  • Real-world prevalence, time of diagnosis, and co-occurrence patterns of birth defects in live-born infants, 2014-2020: A health administrative database study in Japan [2023]

• Journal of Epidemiology
  • Prevalence of Congenital Anomalies in the Japan Environment and Children’s Study [2019]

Latin America and the Caribbean

• Revista Panamericana de Salud Pública
  • A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean [2019]

Latvia

• Central European Journal of Public Health
  • Monitoring of congenital anomalies in Latvia [2014]

Lebanon

• Centre for Arab Genomic Studies
  • Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders [2021]

Low and middle income countries

• Neonatology
  • Optimal Strategies for Screening Common Birth Defects in Children of Low- and Middle-Income Countries: A Systematic Review [2025]

Morocco

• Global Health, Epidemiology and Genomics
  • Congenital Malformations in the Moroccan Surveillance System: Contribution to Prevalence Estimation [2024]

Nepal

• BMC Pediatrics
  • Burden and consequence of birth defects in Nepal-evidence from prospective cohort study [2021]
  • Prevalence of congenital defects including selected neural tube defects in Nepal: results from a health survey [2015]

Qatar

• BMC Oral Health
  • The prevalence of orofacial clefts in Qatar : a cross-sectional nationwide study [2024]

• Scientific Reports
  • Prevalence, predictors, and outcomes of major congenital anomalies: A population-based register study [2023]

Republic of Korea

• BMC Pregnancy and Childbirth
  • Increased prevalence of some birth defects in Korea, 2009–2010 [2016]

• International Journal of Environmental Research and Public Health
  • Trends in the Prevalences of Selected Birth Defects in Korea (2008–2014) [2018]

• Journal of Korean Medical Science
  • Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database [2023]

Russia

• Reproductive Health
  • Prevalence of birth defects in an Arctic Russian setting from 1973 to 2011: a register-based study [2015]

Sub-Saharan Africa

• Pan African Medical Journal
  • Prevalence and associated factors of birth defects among newborns in sub-Saharan African countries: a systematic review and meta-analysis [2020]

• SAGE Open Medicine
  • Birth prevalence of omphalocele and gastroschisis in Sub-Saharan Africa: A systematic review and meta-analysis [2022]

Sweden

• Journal of Plastic Surgery and Hand Surgery
  • Birth prevalence of cleft lip and/or palate - a register study of all children born in Sweden years 2000-2020 [2025]

• Pediatric Surgery International
  • Omphalocele: national current birth prevalence and survival [2021]

Switzerland

• BMC Oral Health
  • Epidemiologic trends of cleft lip and/or palate in Switzerland [2025]

Taiwan

• Children
  • Reducing Birth Defects by Decreasing the Prevalence of Maternal Chronic Diseases-Evaluated by Linked National Registration Dataset [2022]

• International Journal of Environmental Research and Public Health
  • A Comparative Prevalence of Birth Defects between Newborns of Immigrant and Native-Born Mothers in Taiwan: Ten Years of Population-Based Data [2021]

United Arab Emirates

• Centre for Arab Genomic Studies
  • Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database [2023]

• Scientific Reports
  • Live birth prevalence of major congenital anomalies in the United Arab Emirates [2025]

United Kingdom

• International Journal of Environmental Research and Public Health
  • Trends of Hospital Admissions Due to Congenital Anomalies in England and Wales between 1999 and 2019: An Ecological Study [2021]

• National Institute for Health and Care Excellence
  • Thoracoscopic repair of congenital diaphragmatic hernia in neonates [2011]

• Public Health England
  • NCARDRS congenital anomaly statistics: annual data

• Public Health Scotland
  • Congenital conditions in Scotland

United States

• American Academy of Pediatrics
  • Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report [2025]
  • Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report [2025]
  • Diagnosis and Treatment of Idiopathic Congenital Clubfoot [2022]

• Birth Defects Research
  • Prevalence of selected birth defects by maternal nativity status, United States, 1999–2007 [2019]

• Centers for Disease Control and Prevention
  • Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights [2023]
  • Risk of Stillbirth for Fetuses With Specific Birth Defects [2020]
  • Quantification of selection bias in studies of risk factors for birth defects among livebirths [2020]
  • Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017 [2020]
  • Infant Mortality Attributable to Birth Defects — United States, 2003–2017 [2020]
  • Inpatient Hospitalization Costs Associated with Birth Defects Among Persons of All Ages — United States, 2013 [2017]
  • Association Between Infant Mortality Attributable to Birth Defects and Payment Source for Delivery [2017]
  • Birth Defects / FastStats
  • Birth Defects

• National Birth Defects Prevention Network
  • National population-based estimates for major birth defects, 2016-2020 [2024]
  • Co-occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013-2017: A U.S. population-based analysis [2022]
  • Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study [2021]
  • Prevalence of selected birth defects by maternal nativity status, United States, 1999-2007 [2019]
  • National population-based estimates for major birth defects, 2010-2014 [2019]
  • Study of selected birth defects among American Indian/Alaska Native population: A multi-state population-based retrospective study, 1999-2007 [2018]
  • Population-based birth defects data in the United States, 2011-2015: A focus on eye and ear defects [2018]
  • Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects [2017]
  • Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study [2016]
  • Racial/ethnic differences in survival of United States children with birth defects: a population-based study [2015]
  • Population-based birth defects data in the United States, 2008 to 2012: Presentation of state-specific data and descriptive brief on variability of prevalence [2015]
  • Birth Defects Surveillance Guidelines
  • Annual Reports

• National Institute of Child Health and Human Development
  • Congenital Anomalies

WHO

• World Health Organization
  • Digital adaptation kit for birth defects surveillance: operational requirements for implementing WHO recommendations in digital systems [2025]
  • Birth defects surveillance training: facilitator's guide, 2nd ed [2024]
  • Birth defects surveillance: quick reference handbook of selected congenital anomalies and infections [2020]
  • Birth defects surveillance: A manual for programme managers, 2nd Edition [2020]
  • Birth defects surveillance training: facilitator's guide [2015]
  • Birth defects surveillance: atlas of selected congenital anomalies [2014]
  • Birth defects [2010]
  • Congenital disorders: Fact sheet
  • Congenital disorders
  • Congenital conditions
  • Congenital anomalies

WHO Eastern Mediterranean Region

• WHO Eastern Mediterranean Region
  • WHO events addressing public health priorities: the prevention of congenital and genetic disorders in the Eastern Mediterranean Region [2017]
  • Summary report on the expert meeting on the prevention of congenital and genetic disorders in the Eastern Mediterranean Region, London, United Kingdom of Great Britain and Northern Ireland, 29–31 July 2016 [2016]

WHO South-East Asia Region

• WHO South-East Asia Region
  • Regional review of implementation of national plans for birth defects and training on improving quality of birth defects surveillance [2020]
  • Prevention and surveillance of birth defects [2016]
  • Hospital-based birth defects surveillance: facilitator guide [2016]
  • Hospital-based birth defects surveillance: a guide to establish and operate [2016]
  • Birth defects surveillance in South-East Asia : Report of the regional workshop, Bangkok, Thailand, 15-19 July 2013 [2014]
  • Birth defects in South-East Asia: a public health challenge: Situation analysis. [2013]
  • Birth defects in SEARO

{Related topics}

• Topic
  • Newborn
  • Neonatal screening