We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.

Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System Fay Boozman College of Public Health Department of Epidemiology University of Arkansas for Medical Sciences Little Rock Arkansas USA

Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin Texas USA

Cancer Registry Unit Fondazione IRCCS Istituto Nazionale dei Tumori Lombardy Italy

CARIS the Congenital Anomaly Register for Wales Public Health Wales Singleton Hospital Swansea UK

Department of Basic Sciences of Health School of Health Pontificia Universidad Javeriana Cali Cali Colombia

Department of Epidemiology Emory University Rollins School of Public Health Atlanta Georgia USA

Department of Genetics University of Groningen University Medical Center Groningen Eurocat Northern Netherlands Groningen The Netherlands

Department of Medical Genetics Thomayer Hospital Prague Czech Republic

Department of Neonatology Soroka Medical Center Beer Sheva Israel

Division of Birth Defects and Infant Disorders National Center on Birth Defects and Development Disabilities US Centers for Disease Control Atlanta Georgia USA

Division of Medical Genetics Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA

ECEMC Instituto de Salud Carlos 3 Madrid Spain

ECLAMC Center for Medical Education and Clinical Research Buenos Aires Argentina

Human Genetics Institute Pontificia Universidad Javeriana Bogotá Colombia and Hospital Universitario San Ignacio Bogotá Colombia

Institute for Biometrics and Medical Informatics Medical Faculty Otto von Guericke University Magdeburg Germany

Institute of Clinical Physiology National Research Council and Fondazione Toscana Gabriele Monasterio Tuscany Registry of Congenital Defects Pisa Italy

International Center on Birth Defects International Clearinghouse for Birth Defects Surveillance and Research Rome Italy

Malformation Monitoring Centre Saxony Anhalt Medical Faculty Otto von Guericke University Magdeburg Germany

Malta Congenital Anomalies Registry Directorate for Health Information and Research Guardamangia Malta

National Board of Health and Welfare Stockholm Sweden

National Network of Congenital Anomalies of Argentina National Ministry of Health Buenos Aires Argentina

OMNI Net Ukraine Programs Rivne Ukraine

Registro DAN Departamento de Genética Hospital Universitario Dr José E González Universidad Autónoma de Nuevo León Monterrey Mexico

RYVEMCE Department of Genetics Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

Slovak Teratologic Information Centre Slovak Medical University Bratislava Slovak Republic

Tabriz Health Services Management Research Center School of Medicine Tabriz University of Medical Sciences Tabriz Iran

Université de Paris Inserm U1153 Obstetrical Perinatal and Pediatric Epidemiology Research Team Paris France

Utah Department of Health Bureau of Children with Special Health Care Needs Utah Birth Defects Network Salt Lake City Utah USA

See more in PubMed

Aldeiri B, Davidson JR, Eaton S, Coletta R, Cardoso Almeida A, Long A-M, … de Coppi P. (2019). Variations in the detection of anorectal anomalies at birth among European cities. European Journal of Pediatric Surgery, 30, 287–292. 10.1055/s-0039-1687868 PubMed DOI

Amerstorfer EE, Schmiedeke E, Samuk I, Sloots CEJ, van Rooij IALM, Jenetzky E, … ARM-Net Consortium. (2022). Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences—The ARM-Net Consortium Consensus. Children (Basel), 9, 831. 10.3390/children9060831 PubMed DOI PMC

Brantberg A, Blaas H-GK, Haugen SE, Isaksen CV, & Eik-Nes SH. (2006). Imperforate anus: A relatively common anomaly rarely diagnosed prenatally. Ultrasound in Obstetrics & Gynecology, 28, 904–910. 10.1002/uog.3862 PubMed DOI

Cairo SB, Gasior A, Rollins MD, & Rothstein DH. (2018). Challenges in transition of care for patients with anorectal malformations: A systematic review and recommendations for comprehensive care. Diseases of the Colon and Rectum, 61, 390–399. 10.1097/DCR.0000000000001033 PubMed DOI

Cassina M, Fascetti Leon F, Ruol M, Chiarenza SF, Scirè G, Midrio P, … Gamba P. (2019). Prevalence and survival of patients with anorectal malformations: A population-based study. Journal of Pediatric Surgery, 54, 1998–2003. 10.1016/j.jpedsurg.2019.03.004 PubMed DOI

Christensen K, Madsen CM, Hauge M, & Kock K. (1990). An epidemiological study of congenital anorectal malformations: 15 Danish birth cohorts followed for 7 years. Paediatric and Perinatal Epidemiology, 4, 269–275. 10.1111/j.1365-3016.1990.tb00650.x PubMed DOI

Cuschieri A. (2001). Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. American Journal of Medical Genetics, 103, 207–215. 10.1002/ajmg.1532.abs PubMed DOI

Eltayeb AA. (2010). Delayed presentation of anorectal malformations: the possible associated morbidity and mortality. Pediatric Surgery International, 26, 801–806. 10.1007/s00383-010-2641-2 PubMed DOI

EUROCAT- European Surviellance of Congenital Anomalies. Prevalence charts and tables: Bladder Exstrophy and/or epispadia. Accessed April 20, 2021: 2021. [cited 20 Apr 2021]. Available from: https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocatdata/prevalence_en.

Haider N, & Fisher R. (2007). Mortality and morbidity associated with late diagnosis of anorectal malformations in children. The Surgeon, 5, 327–330. 10.1016/s1479-666x(07)80083-7 PubMed DOI

Hamid CH, Holland AJA, & Martin HCO. (2007). Long-term outcome of anorectal malformations: the patient perspective. Pediatric Surgery International, 23, 97–102. 10.1007/s00383-006-1841-2 PubMed DOI

Harris J, Kallen B, & Robert E. (1995). Descriptive epidemiology of alimentary tract atresia. Teratology, 52, 15–29. 10.1002/tera.1420520104 PubMed DOI

Hartford L, Brisighelli G, Gabler T, & Westgarth-Taylor C. (2022). Single-stage procedures for anorectal malformations: A systematic review and meta-analysis. Journal of Pediatric Surgery, 57(9), 75–84. 10.1016/j.jpedsurg.2021.12.024 PubMed DOI

Heinke D, Nestoridi E, Hernandez-Diaz S, Williams PL, Rich-Edwards JW, Lin AE, … for the National Birth Defects Prevention Study. (2020). Risk of stillbirth for fetuses with specific birth defects. Obstetrics and Gynecology, 135, 133–140. 10.1097/AOG.0000000000003614 PubMed DOI PMC

Herman RS, & Teitelbaum DH. (2012). Anorectal malformations. Clinics in Perinatology, 39, 403–422. 10.1016/j.clp.2012.04.001 PubMed DOI

Jonker JE, Trzpis M, & PMA B. (2017). Underdiagnosis of mild congenital anorectal malformations. The Journal of Pediatrics, 186, 101–104.e1. 10.1016/j.jpeds.2017.03.054 PubMed DOI

Kluth D. (2010). Embryology of anorectal malformations. Seminars in Pediatric Surgery, 19, 201–208. 10.1053/j.sempedsurg.2010.03.005 PubMed DOI

Kovacic K, Matta SR, Kovacic K, Calkins C, Yan K, & Sood MR. (2018). Healthcare utilization and comorbidities associated with anorectal malformations in the United States. The Journal of Pediatrics, 194, 142–146. 10.1016/j.jpeds.2017.10.010 PubMed DOI

Kumar A, Agarwala S, Srinivas M, Bajpai M, Bhatnagar V, Gupta DK, … Mitra DK. (2005). Anorectal malformations and their impact on survival. Indian Journal of Pediatrics, 72, 1039–1042. 10.1007/BF02724407 PubMed DOI

Lowry RB, Sibbald B, & Bedard T. (2007). Stability of prevalence rates of anorectal malformations in the Alberta Congenital Anomalies Surveillance System 1990–2004. Journal of Pediatric Surgery, 42, 1417–1421. 10.1016/j.jpedsurg.2007.03.045 PubMed DOI

Morris JK, Springett AL, Greenlees R, Loane M, Addor M-C, Arriola L, … Dolk H. (2018). Trends in congenital anomalies in Europe from 1980 to 2012. PLoS One, 13, e0194986. 10.1371/journal.pone.0194986 PubMed DOI PMC

Nembhard WN, Waller DK, Sever LE, & Canfield MA. (2001). Patterns of first-year survival among infants with selected congenital anomalies in Texas, 1995–1997. Teratology, 64, 267–275. 10.1002/tera.1073 PubMed DOI

Ochoa JH, Chiesa M, Vildoza RP, Wong AE, & Sepulveda W. (2012). Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high-risk population. Ultrasound in Obstetrics & Gynecology, 39, 521–527. 10.1002/uog.9083 PubMed DOI

Peña A, Grasshoff S, & Levitt M. (2007). Reoperations in anorectal malformations. Journal of Pediatric Surgery, 42, 318–325. 10.1016/j.jpedsurg.2006.10.034 PubMed DOI

Ples L, Chicea R, Poenaru M-O, Neacsu A, Sima RM, & Micu R. (2020). Anorectal atresia be diagnosed in the first trimester of pregnancy? A systematic literature review. Medicina (Kaunas, Lithuania), 56, 583. 10.3390/medicina56110583 PubMed DOI PMC

Rigueros Springford L, Connor MJ, Jones K, Kapetanakis VV, & Giuliani S. (2016). Prevalence of active long-term problems in patients with anorectal malformations: A systematic review. Diseases of the Colon and Rectum, 59, 570– 580. 10.1097/DCR.0000000000000576 PubMed DOI

Rohrer L, Vial Y, Gengler C, Tenisch E, & Alamo L. (2020). Prenatal imaging of anorectal malformations - 10-year experience at a tertiary center in Switzerland. Pediatric Radiology, 50, 57–67. 10.1007/s00247-019-04513-2 PubMed DOI

Singh M, & Mehra K. (2022). Imperforate anus. Treasure Island (FL): StatPearls. PubMed

Solomon BD. (2011). VACTERL/VATER association. Orphanet Journal of Rare Diseases, 6, 56. 10.1186/17501172-6-56 PubMed DOI PMC

Spouge D, & Baird PA. (1986). Imperforate anus in 700,000 consecutive liveborn infants. American Journal of Medical Genetics, 25(S2), 151–161. 10.1002/ajmg.1320250619 PubMed DOI

Stoll C, Alembik Y, Roth MP, & Dott B. (1997). Risk factors in congenital anal atresias. Annales de Génétique, 40, 197–204. PubMed

Stoll C, Dott B, Alembik Y, & Roth M-P. (2018). Associated anomalies in cases with anorectal anomalies. American Journal of Medical Genetics. Part A, 176, 2646–2660. 10.1002/ajmg.a.40530 PubMed DOI

Su Y-M, Lin Y, Chen S-Q, Yang H-Y, Lv G-R, & Lin J-R. (2019). Prenatal evaluation for detection of Anorectal atresia: Value of ultrasound. Journal of Ultrasound in Medicine, 38, 1501–1509. 10.1002/jum.14836 PubMed DOI

Tirrell TF, McNamara ER, & Dickie BH. (2021). Reoperative surgery in anorectal malformation patients. Translational Gastroenterology and Hepatology, 6, 43. 10.21037/tgh-20-214 PubMed DOI PMC

Totonelli G, Catania VD, Morini F, Fusaro F, Mosiello G, Iacobelli BD, & Bagolan P. (2015). VACTERL association in anorectal malformation: effect on the outcome. Pediatric Surgery International, 31, 805–808. Epub July 5, 2015. 10.1007/s00383-015-3745-5 PubMed DOI

van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor M-C, … Bergman JEH. (2020). Spectrum of congenital anomalies among VACTERL cases. A EUROCAT population-based study. Pediatric Research, 87, 541–549. 10.1038/s41390-0190561-y PubMed DOI

Yang P, Khoury MJ, Stewart WF, Beaty TH, Chee E, Beatty JC, … Gordis L. (1994). Comparative epidemiology of selected midline congenital abnormalities. Genetic Epidemi ology, 11, 141–154. 10.1002/gepi.1370110205 PubMed DOI