Anorectal developmental anomalies
DOI:
https://doi.org/10.29038/NCBio.23.2-7Keywords:
аноректальні мальфорації, новонароджені.Abstract
Anorectal malformations include a wide range of conditions that can affect both sexes and involve the distal anus and rectum, as well as the urinary and genital tracts. An imperforate anus is a common birth defect that results from defects or delays in the development of the hindgut. The diagnosis of nonperforation of the anus is usually made shortly after birth through a routine medical examination. Patients have the best chance for a good functional outcome if the disease is diagnosed early and effective anatomic repair is started immediately. Most malformations in girls can only be correctly diagnosed on physical examination. An anus visible in the perineum with a normal vagina and urethra suggests a perineal fistula. A rectovestibular fistula occurs when the opening is in the posterior vestibule and beyond the hymen. If only one opening is visible between the labia, it is very likely a cloaca. Rectovaginal fistulae may initially appear as a non-perforating anus without a fistula (a normal-looking vagina and urethra, but no visible anus). Close examination usually reveals the presence of an opening in the back wall of the vagina or inside the hymenal ring. Radiological evaluation of a newborn with non-perforated anus should include abdominal ultrasound, using it to detect urological abnormalities. Sepsis, aspiration, abdominal distention, colonic perforation, respiratory distress, electrolyte imbalance are complications that can result from delayed diagnostic and therapeutic treatment of anorectal malforations. Accurate preoperative identification of an internal fistula between the distal part of the genitourinary tract is very important for optimal surgical treatment and prevention of possible damage to the genitourinary tract. Staged surgery, the most common approach for treating anorectal malformations, consists of three operations: a colostomy at birth, a definitive operation at 2–3 months of age, and closure of the colostomy at approximately 6 months of age.
References
Antoniuk, O. P. Formuvannia kloaky i zakladka sfinkteriv priamoi kyshky. Vesniani anatomichni chytannia. Zbirnyk statei naukovo-praktychnoi konferentsii prysviachenoi pamiati dotsenta Kolesova M. A. 27 travnia 2016, Hrodno. Hr. HMU, 2016, S. 5–12. (in Ukrainian)
Veselyi, S. V.; Klimanskyi, R. P. Rezultaty khirurhichnoho likuvannia anorektalnykh vad rozvytku u ditei. Klinichna khirurhiia. 2018, 85(11). S. 53–56. doi: 10.26779/2522-1396.2018.11.53. (in Ukrainian)
Dzham, O. P.; Sliepov, O. K. Aktualni problemy klasyfikatsii anorektalnykh vad rozvytku v ditei u suchasnykh umovakh (ohliad literatury). Khirurhiia dytiachoho viku. 2020. № 3 (68). S. 41–48. (in Ukrainian)
Dolnytskyi, O. V.; Halahan, V. O.; Romadina, O. V. Pryrodzheni vady rozvytku. Osnovy diahnostyky ta likuvannia. Kyiv, 2009. 1040 s. https://www.olx.ua/d/obyavlenie/dolnitskiy. (in Ukrainian)
Embriolohichnyi slovnyk / za zah. redaktsiieiu prof. V. S. Pykaliuka. Simferopol-Chernivtsi, 2013. 256 s. (in Ukrainian)
Pykaliuk, V. S.; Osmanov, A. Yu. Filo- ontohenez orhaniv i system liudyny. Simferopol: Dolia, 2011. 312 s. (in Ukrainian)
Pryrodzheni vady rozvytku liudyny. Zahalni polozhennia teratolohii: navchalnyi posibnyk / T. M. Boichuk, I. Yu. Oliinyk, O. P. Antoniuk, V. S. Pykaliuk. Chernivtsi: Meduniversytet, 2015. 361 s. (in Ukrainian)
Teratolohichnyi tlumachnyi slovnyk / uklad.: V. S. Pykaliuk. Lutsk: Vezha-Druk, 2019. 576 s. (in Ukrainian)
Amerstorfer, E. E.; Schmiedeke, E.; Samuk, I.; Sloots, C. E.; van Rooij, I. A.; Jenetzky, E., ... & ARM-Net Consortium. Clinical differentiation between a normal anus, anterior anus, congenital anal stenosis, and perineal fistula: definitions and consequences–the ARM-Net consortium consensus. Children, 9(6), 2022. P. 831. doi: 10.3390/children9060831.
Aziz, M. A. Prenatal diagnosis of rare cloacal exstrophy: a case report. Annals of Medicine and Surgery, 2022. 81, P. 104436. doi: 10.1016/j.amsu.2022.104436.
Benninga, M.; Candy, D. C.; Catto-Smith, A. G.; Clayden, G.; Loening-Baucke, V.; Di Lorenzo, C., ... & Staiano, A. The Paris consensus on childhood constipation terminology (PACCT) group. Journal of pediatric gastroenterology and nutrition, 2005. 40(3), P. 273–275. doi: 10.1097/01.mpg.0000158071.24327.88.
Bonnot, O.; Vollset, S. E.; Godet, P. F.; D’Amato, T., & Robert, E. Maternal exposure to lorazepam and anal atresia in newborns: results from a hypothesis-generating study of benzodiazepines and malformations. Journal of Clinical Psychopharmacology, 2001. 21(4), P. 456–458.
Brantberg, A.; Blaas, H. G.; Haugen, S. E.; Isaksen, C. V., & Eik‐Nes, S. H. Imperforate anus: a relatively common anomaly rarely diagnosed prenatally. Ultrasound in obstetrics & gynecology, 2006. 28(7), P. 904–910. doi: 10.1002/uog.3862.
Browne, M. L.; Rasmussen, S. A.; Hoyt, A. T.; Waller, D. K.; Druschel, C. M.; Caton, A. R., ... & Romitti, P. A. Maternal thyroid disease, thyroid medication use, and selected birth defects in the National Birth Defects Prevention Study. Birth Defects Research Part A: Clinical and Molecular Teratology, 2009. 85(7), P. 621–628.
Caruso, A. M.; Bommarito, D.; Girgenti, V.; Amato, G.; Calabrese, U.; Figuccia, A., ... & Di Pace, M. R. Evaluation of Anal Sphincter with High Resolution Anorectal Manometry and 3D Reconstruction in Patients with Anorectal Malformation. Children, 2023. 10(6), P. 1037. doi: 10.3390/children10061037.
Chao, A. S.; Chang, Y. L., & Hsieh, P. C. Prenatal diagnosis of congenital megalourethra with imperforate anus. BMC pediatrics, 2019. 19(1), P. 1–4. doi: 10.1186/s12887-019-1510-y.
Choi, Y. H.; Kim, I. O.; Cheon, J. E.; Kim, W. S., & Yeon, K. M. Imperforate anus: determination of type using transperineal ultrasonography. Korean Journal of Radiology, 2009. 10(4), P. 355–360. doi: 10.3348/kjr.2009.10.4.355.
Den Hollander, V. E.; Gerritsen, S., van Dijk, T. H., & Trzpis, M. Anorectal Malformation with Anorectal Manometry: A Prospective Study. Am J Gastroenterol. 2023, 118(3). P. 546–502. doi: 10.14309/ajg.0000000000002121.
Erculiani, M.; Trovalusci, E.; Zanatta, C.; De Lorenzis, M. S.; Filippi, E.; Bracalente, G., & Midrio, P. First trimester lower abdominal cysts as early predictor of anorectal malformations. Journal of Ultrasound, 2023. 26(2), P. 543–548.
Evans-Barns, H. M.; Tien, M. Y.; Trajanovska, M.; Safe, M.; Hutson, J. M.; Dinning, P. G., & King, S. K. Post-Operative Anorectal Manometry in Children following Anorectal Malformation Repair: A Systematic Review. Journal of Clinical Medicine, 2023. 12(7), P. 2543. doi: 10.3390/jcm12072543. https://med-expert.com.ua/journals/wp-content/
Furu, K.; Kieler, H.; Haglund, B.; Engeland, A.; Selmer, R.; Stephansson, O., ... & Nørgaard, M. Selective serotonin reuptake inhibitors and venlafaxine in early pregnancy and risk of birth defects: population based cohort study and sibling design. bmj, 2015. 350. P. 1798. doi: 10.1136/bmj.h1798.
Gardikis, S.; Antypas, S.; Mamoulakis, C.; Demetriades, D.; Dolatzas, T.; Tsalkidis, A., ... & Simopoulos, C. Colostomy type in anorectal malformations: 10-years experience. Minerva pediatrica, 2004. 56(4), P. 425–429. https://pubmed.ncbi.nlm.nih.gov/15457140
Garne, E.; Hansen, A. V.; Morris, J.; Zaupper, L.; Addor, M. C.; Barisic, I., ... & Dolk, H. Use of asthma medication during pregnancy and risk of specific congenital anomalies: a European case-malformed control study. Journal of Allergy and Clinical Immunology, 2015. 136(6), P. 1496–1502. doi:10.1016/j.jaci.2015.05.043.
Haber, H. P.; Warmann, S. W., & Fuchs, J. Transperineal sonography of the anal sphincter complex in neonates and infants: differentiation of anteriorly displaced anus from low-type imperforate anus with perineal fistula. Ultraschall in der Medizin-European Journal of Ultrasound, 2008. P. 383–387.
Jonker, J. E.; Trzpis, M., & Broens, P. M. Underdiagnosis of mild congenital anorectal malformations. The Journal of pediatrics, 2017. 186, P. 101–104. doi: 10.1016/j.jpeds.2017.03.054.
Khatib, N.; Belossesky, R.; Marwan, O., & Weiner, Z. Fetal bowel calcifications: a sign of anal atresia with rectourethral fistula. Journal of Clinical Ultrasound, 2010. 38(6), P. 332–334. doi: 10.1002/jcu.20706
Kim, H. M.; Cha, H. H.; Kim, J. I.; Seong, W. J.; Park, S. H., & Kim, M. J. The diagnosis of an imperforate anus in female fetuses. Yeungnam University Journal of Medicine, 2021. 38(3), P. 240–244.
Kruepunga, N.; Hikspoors, J. P.; Mekonen, H. K.; Mommen, G. M.; Meemon, K.; Weerachatyanukul, W., ... & Lamers, W. H. The development of the cloaca in the human embryo. Journal of anatomy, 2018. 233(6), P. 724–739. doi: 10.1111/joa.12882.
Laamrani, F. Z., & Dafiri, R. Rectal atresia: a rare cause of failure to pass meconium. Pan African Medical Journal, 2014. 19(1). P. 198. doi: 10.11604/pamj.2014.19.198.4057.
Lam, Y. H.; Shek, T., & Tang, M. H. Y. Sonographic features of anal atresia at 12 weeks. Ultrasound in Obstetrics and Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2002. 19(5), P. 523–524. doi: 10.1046/j.1469-0705.2002.00694.x.
Lawal, T. A. Overview of anorectal malformations in Africa. Frontiers in surgery, 6, P. 7.
Lee, M. Y.; Won, H. S.; Shim, J. Y.; Lee, P. R.; Kim, A.; Lee, B. S., ... & Cho, H. J. Sonographic determination of type in a fetal imperforate anus. Journal of Ultrasound in Medicine, 2016. 35(6), P. 1285–1291. doi: 10.7863/ultra.15.08056.
Levitt, M. A., & Peña, A. Anorectal malformations. Orphanet journal of rare diseases, 2007. 2(1), P. 1–13.
Levitt, M. A., & Peña, A. Pitfalls in the management of newborn cloacas. Pediatric surgery international, 2005. 21, P. 264–269. doi: 10.1007/s00383-005-1380-2.
Levitt, M. A.; Stein, D. M., & Pena, A. Gynecologic Concerns in the Treatment of Teenagers With Cloaca. The Journal of Urology, 1999. 161(4), P. 1407–1407. doi: 10.1016/S0022-3468(98)90429-8.
Lubusky, M.; Prochazka, M.; Dhaifalah, I.; Horak, D.; Geierova, M., & Santavy, J. Fetal enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequence. Prenatal Diagnosis: Published in Affiliation With the International Society for Prenatal Diagnosis, 2006. 26(4), P. 345–349. doi: 10.1002/pd.1415.
Martynov, I.; Feng, X.; Duess, J. W.; Gosemann, J. H.; Lacher, M., & Mayer, S. Global development of research on anorectal malformations over the last five decades: a bibliometric analysis. Children, 2022. 9(2), P. 253. doi: 10.3390/children902025.
Matsumaru, D.; Murashima, A.; Fukushima, J.; Senda, S.; Matsushita, S., Nakagata, N., ... & Yamada, G. Systematic stereoscopic analyses for cloacal development: The origin of anorectal malformations. Scientific reports, 2015. 5(1), P. 13943. doi: 10.1038/srep13943.
McHugh, K.; Dudley, N. E., & Tam, P. Pre-operative MRI of anorectal anomalies in the newborn period. Pediatric radiology, 1995. 25, P. 33–36. https://pubmed.ncbi.nlm.nih.gov/8577548.
Moaddab, A.; Sananes, N.; Hernandez-Ruano, S.; Werneck Britto, I. S.; Blumenfeld, Y., Stoll, F., ... & Ruano, R. Prenatal diagnosis and perinatal outcomes of congenital megalourethra: a multicenter cohort study and systematic review of the literature. Journal of Ultrasound in Medicine, 2015. 34(11), P. 2057–2064. doi: 10.7863/ultra.14.12064.
Ochoa, J. H.; Chiesa, M.; Vildoza, R. P.; Wong, A. E., & Sepulveda, W. Evaluation of the perianal muscular complex in the prenatal diagnosis of anorectal atresia in a high‐risk population. Ultrasound in obstetrics & gynecology, 2012. 39(5), P. 521–527. doi: 10.1002/uog.9083.
Peña, A.; Migotto-Krieger, M., & Levitt, M. A. Colostomy in anorectal malformations: a procedure with serious but preventable complications. Journal of pediatric surgery, 2006). 41(4), P. 748–756. doi: 10.1016/j.jpedsurg.2005.12.021.
Ples, L.; Chicea, R.; Poenaru, M. O.; Neacsu, A.; Sima, R. M., & Micu, R. Can anorectal atresia be diagnosed in the first trimester of pregnancy? A systematic literature review. Medicina, 2020. 56(11), P. 583. doi: 10.3390/medicina56110583.
Pohl‐Schickinger, A.; Henrich, W.; Degenhardt, P.; Bassir, C., & Hüseman, D. Echogenic foci in the dilated fetal colon may be associated with the presence of a rectourinary fistula. Ultrasound in Obstetrics and Gynecology: The Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2006. 28(3), P. 341–344. doi: 10.1002/uog.2852.
Polen, K. N.; Rasmussen, S. A.; Riehle‐Colarusso, T.; Reefhuis, J., & National Birth Defects Prevention Study. Association between reported venlafaxine use in early pregnancy and birth defects, national birth defects prevention study, 1997–2007. Birth Defects Research Part A: Clinical and Molecular Teratology, 2013. 97(1), P. 28–35. doi: 10.1002/bdra.23096.
Rintala, R. J.; & Lindahl, H. G. Fecal continence in patients having undergone posterior sagittal anorectoplasty procedure for a high anorectal malformation improves at adolescence, as constipation disappears. Journal of pediatric surgery, 2001. 36(8), P. 1218–1221. doi: 10.1053/jpsu.2001.25766.
Saeed, S.; Khalid, A. R.; Farhan, M.; Basit, J.; Tousif, K.; Haider, T., ... & Rehman, M. E. U. Epidemiological Comparison of Anorectal Malformation With Other Gastrointestinal Abnormalities in Patients in the Pediatric Ward. Cureus, 2022. 14(3). P. 23136.
Taipale, P.; Rovamo, L., & Hiilesmaa, V. First‐trimester diagnosis of imperforate anus. Ultrasound in obstetrics & gynecology, 2005. 25(2), P. 187–188. doi: 10.1002/uog.1832.
Tofft, L.; Salö, M.; Arnbjörnsson, E., & Stenström, P. Accuracy of pre-operative fistula diagnostics in anorectal malformations. BMC pediatrics, 2021. 21(1), P. 283. doi: 10.1186/s12887-021-02761-6.
Toshimitsu, M.; Iriyama, T.; Sayama, S.; Suzuki, K.; Kakiuchi, S., Ichinose, M., ... & Osuga, Y. A Fetus with Imperforate Anus Developing Pulmonary Hypoplasia Triggered by Transient Urethral Obstruction. Case Reports in Obstetrics and Gynecology, 2021, P. 1–5. doi: 10.1155/2021/9950578.
Upadhyaya, V. D.; Gangopadhyay, A. N.; Srivastava, P.; Hasan, Z., & Sharma, S. P. Evolution of management of anorectal malformation through the ages. The Internet Journal of Surgery, 2008. 17(1). P. 1–17. doi:10.5580/236.
Vinluan, M. L.; Olveda, R. M.; Ortanez, C. K.; Abellera, M.; Olveda, D. U.; Chy, D. C., & Ross, A. G. Access to essential paediatric surgery in the developing world: a case of imperforate anus with rectovaginal and rectocutaneous fistulas left untreated. Case Reports, 2015, bcr2015210084.
Wood, R. J., & Levitt, M. A. (2018). Anorectal malformations. Clinics in colon and rectal surgery, 31(02), P. 61–70.
Yang, G.; Wang, Y., & Jiang, X. Imperforate anus with rectopenile fistula: a case report and systematic review of the literature. BMC pediatrics, 2016. 16(1), P. 1–6. doi: 10.1186/s12887-016-0604-z.
Yin, C.; Tong, L.; Nie, D.; Fei, Z.; Tan, X., & Ma, M. Significance of the ‘line sign’in the diagnosis of congenital imperforate anus on prenatal ultrasound. BMC pediatrics, 2022. 22(1), P. 1–8. doi: 10.1186/s12887-021-03084-2.
Yuan, P.; Qiao, L.; Dai, L.; Wang, Y. P.; Zhou, G. X.; Han, Y., ... & Zhu, J. Spatial distribution patterns of anorectal atresia/stenosis in China: Use of two-dimensional graph-theoretical clustering. World journal of gastroenterology: WJG, 2009. 15(22), P. 2787–2793.
Zwink, N., & Jenetzky, E. Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis. Orphanet journal of rare diseases, 2018. 13(1), P. 1–23. doi: 10.1186/s13023-018-0789-3.
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