Modern methods of diagnosis and treatment of congenital malformations of the gastrointestinal tract in infantis
https://doi.org/10.25587/2587-5590-2025-4-73-84
Abstract
Congenital malformations are a common pathology. They can be the main causes of morbidity, mortality in infants and disability in old age. The purpose of the review: to expand the understanding of the frequency, structure, causes, diagnostics of children with congenital malformations of the gastrointestinal tract. To search for scientific articles, the Google system, websites: E-library and PubMed were used. By keywords, 2478 publications were found in the E-library database, 764 publications in the PubMed database over the past 5 years, 41 of them are described. Data on the organogenesis of the digestive system and information on what defects are formed from various parts of the primary intestine are provided. This article discusses esophageal atresia, hypertrophic pyloric stenosis, Meckel’s diverticulum, Hirschsprung’s disease, Ladd’s syndrome, anal atresia, and biliary atresia. The frequency of their occurrence is presented; the most common defect is atresia. The formation of the sections of the gastrointestinal tract is described in relation to the anatomical relationship and blood supply, the presentation is carried out sequentially in relation to the embryonic source. The pathogenesis, features of clinical manifestations, various methods of modern diagnostics and specialized medical care are briefly described. The main method of treatment at present is minimally invasive surgery. Video-assisted operations are used, such as peroral submucous pyloromyotomy for hypertrophic pylorostenosis or transanal endorectal reduction for Hirschsprung’s disease. The expansion of the range of use of robotic technology for treatment is discussed. The issue of using transplantation of pluripotent stem cells for the treatment of Hirschsprung’s disease is debatable.
About the Authors
V. A. ShcherbakRussian Federation
Shcherbak Vladimir Alexandrovich, Dr. Sci (Medicine), Professor, Head of Pediatric Department of Postgraduate Training
Chita
Author ID Scopus: 56175430800
V. A. Deeva
Russian Federation
Deeva Victoria Alekseevna, resident, Pediatric Department of Postgraduate Training
Chita
AuthorID: 1270096
Ya. A. Sverkunova
Russian Federation
Sverkunova Yana Aleksandrovna, resident, Department of Propaedeutics of Childhood Diseases
Chita
AuthorID: 1231242
References
1. Sirichamratsakul K, Laochareonsuk W, Surachat K, Sangkhathat S. Population-based prevalence study of common congenital malformations of the alimentary tract and abdominal wall in Thailand: a study using data from the National Health Security Office. World J Pediatr Surg. 2023;6(3):e000540. doi: 10.1136/wjps-2022-000540.
2. Xie X, Pei J, Zhang L, Wu Y. Global birth prevalence of major congenital anomalies: a systematic review and meta-analysis. BMC Public Health. 2025;25(1):449. doi:10.1186/s12889-025-21642-6.
3. Rich BS, Bornstein E, Dolgin SE. Intestinal Atresias. Pediatr Rev. 2022 May 1;43(5):266–274. doi: 10.1542/pir.2021-005177.
4. Howley MM, Williford E, Agopian AJ et al National Birth Defects Prevention Study. Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. Birth Defects Res. 2023 Jan 1;115(1):43–55. doi: 10.1002/bdr2.2003.
5. Wolder D, Swat A, Wolak P. et al Enhanced Diagnostic Capabilities: Ultrasound Imaging of Fetal Alimentary Tract Obstruction with Advanced Imaging Technologies. Am J Case Rep. 2024 Mar 6;25:e943419. doi: 10.12659/AJCR.943419.
6. Morris G, Kennedy A Jr. Small Bowel Congenital Anomalies: A Review and Update. Surg Clin North Am. 2022 Oct;102(5):821–835. doi: 10.1016/j.suc.2022.07.012.
7. Ludwig K, De Bartolo D, Salerno A., et al. Congenital anomalies of the tubular gastrointestinal tract. Pathologica. 2022;114(1):40-54. doi:10.32074/1591-951X-553.
8. Verma R. Congenital Anomalies of the Gastrointestinal Tract [Internet]. Congenital Anomalies in Newborn Infants – Clinical and Etiopathological Perspectives. IntechOpen; 2021. Available at: http://dx.doi.org/10.5772/intechopen.92588
9. Baldwin DL, Yadav D. Esophageal Atresia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025. Available at: Esophageal Atresia – StatPearls – NCBI Bookshelf ( Accessed 25.11.2025).
10. Dingemann C, Eaton S, Aksnes G., et al. ERNICA Consensus Conference on the Management of Patients with Esophageal Atresia and Tracheoesophageal Fistula: Diagnostics, Preoperative, Operative, and Postoperative Management. Eur J Pediatr Surg. 2020 Aug;30(4):326–336. doi: 10.1055/s-0039-1693116.
11. Wilson L, Whitby EH. Prenatal diagnosis of tracheo-oesophageal fistula/oesophageal atresia: is MRI helpful? Pediatric Res. 2025 May;97(6):1976–1982. doi: 10.1038/s41390-024-03503-x.
12. Kozlov Yu. A., Poloyan S.S., Marchuk A.A., et al. Systematic review and meta-analysis of thoracoscopic and open treatment of esophageal atresia. Pediatrics. G.N. Speransky Journal. 2023;102(4):112–123 (in Russian). DOI 10.24110/0031-403X-2023-102-4-112-125. (in Russian)
13. Robbek I.G., Savvina V.A., Varfolomeev A.R. On the issue of diagnosis of congenital hypertrophic pyloric stenosis. Vestnik of North-Eastern Federal University. Medical Sciences. 2021;3:33–38 (in Russian). DOI: 10.25587/SVFU.2021.24.3.005.
14. Zampieri N, Corato V, Scirè G, Camoglio FS. Hypertrophic Pyloric Stenosis: 10 Years’ Experience with Standard Open and Laparoscopic Approach. Pediatr Gastroenterol Hepatol Nutr. 2021 May;24(3):265–272. doi: 10.5223/pghn.2021.24.3.265.
15. Zhang H, Liu Z, Ma L., et al. Gastric Peroral Endoscopic Pyloromyotomy for Infants With Congenital Hypertrophic Pyloric Stenosis. Am J Gastroenterol. 2023 Mar 1;118(3):465–474. doi: 10.14309/ajg.0000000000001973.
16. Fusco JC, Achey MA, Upperman JS. Meckel’s diverticulum: Evaluation and management. Semin Pediatr Surg. 2022 Feb;31(1):151142. doi: 10.1016/j.sempedsurg.2022.151142.
17. Liaqat N, Mahomed A, Nayyar SI., et al. Perforated Meckel’s diverticulum in neonates: a report of six cases and systematic review of the literature. Ann Pediatric Surg. 2022;18(1):18. doi: 10.1186/s43159-021-00154-z.
18. Nissen M, Sander V, Rogge P, et al. Meckel’s Diverticulum in Children: A Monocentric Experience and Mini-Review of Literature. Children (Basel). 2022 Jan 1;9(1):35. doi: 10.3390/children9010035.
19. Shcherbak V.A. Modern Problems of Pediatric Gastroenterology. Transbaikal Medical Bulletin. 2012;2:128–137 (in Russian).
20. Menghwani H., Piplani R., Yhoshu E. Delayed Presentation of Malrotation: Case Series and Literature Review. J Indian Assoc Pediatr Surg. 2023 Jul-Aug;28(4):271–277. doi: 10.4103/jiaps.jiaps_2_23
21. Xie W, Li Z, Wang Q, et al. Laparoscopic vs open Ladd’s procedure for malrotation in neonates and infants: a propensity score matching analysis. BMC Surg. 2022 Jan 26;22(1):25. doi:10.1186/s12893-022-01487-1.
22. Zhang Z, Chen Y, Yan J. Laparoscopic Versus Open Ladd’s Procedure for Intestinal Malrotation in Infants and Children: A Systematic Review and Meta-Analysis. J Laparoendosc Adv Surg Tech A. 2022 Feb;32(2):204– 212. doi: 10.1089/lap.2021.0436.
23. Ludwig K., Santoro L., Ingravallo G, et al. Congenital anomalies of the gastrointestinal tract: the liver, extrahepatic biliary tree and pancreas. Pathologica. 2022, Feb;114(1):55–63. doi: 10.32074/1591-951X-709
24. Tam PKH, Wells RG, Tang CSM, et al. Biliary atresia. Nat Rev Dis Primers. 2024 Jul 11;10(1):47. doi:10.1038/s41572-024-00533-x.
25. Zhang M, Cao G, Li X, et al. Robotic-assisted Kasai portoenterostomy for biliary atresia. Surg Endosc. 2023 May;37(5):3540–3547. doi:10.1007/s00464-022-09855-x.
26. Antala S, Taylor S.A. Biliary Atresia in Children: Update on Disease Mechanism, Therapies, and Patient Outcomes. Clin Liver Dis. 2022, Aug;26(3):341–354. doi: 10.1016/j.cld.2022.03.001.
27. Cortes-Cerisuelo M, Boumpoureka C, Cassar N, et al. Liver Transplantation for Biliary Atresia in Adulthood: Single-Center Surgical Experience. J Clin Med. 2021 Oct 26;10(21):4969. doi: 10.3390/jcm10214969.
28. Montalva L, Cheng LS, Kapur R, et al. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y.
29. Gershon EM, Rodriguez L, Arbizu RA. Hirschsprung’s disease associated enterocolitis: A comprehensive review. World J Clin Pediatr. 2023. Jun 9;12(3).68–76. doi: 10.5409/wjcp.v12.i3.68
30. Morera C, Nurko S. Hirschsprung’s disease. Management. Aliment Pharmacol Ther. 2024 Jul;60 Suppl 1:66-S76. doi: 10.1111/apt.18068.
31. Stepanova N.M., Novozhilov V.A., Zvonkov D.A., et al. Comparative evaluation of minimally invasive interventions for Hirschsprung’s disease in children. Pediatric Surgery. Journal named after Yu. F. Isakov. 2022;26(4):195-200 (in Russian). DOI 10.55308/1560-9510-2022-26-4-195-200
32. Die X, Feng W, Song A, et al. Risk factors and simple scoring system for predicting postoperative nutritional status of Hirschsprung’s disease. Front Nutr. 2024 Dec 6;11:1441104. doi: 10.3389/fnut.2024.1441104.
33. Alhawaj AF. Stem cell-based therapy for Hirschsprung disease, do we have the guts to treat? Gene Ther. 2022 Nov 29;(10–11):578–587. doi:10.1038/s41434-021-00268-4.
34. Pan W, Goldstein AM, Hotta R. Opportunities for novel diagnostic and cell-based therapies for Hirschsprung disease. J Pediatr Surg. 2022, Sep;57(9):61–68. doi: 10.1016/j.jpedsurg.2021.10.049.
35. Ji Y, Tam PK, Tang CS. Roles of Enteric Neural Stem Cell Niche and Enteric Nervous System Development in Hirschsprung Disease. Int J Mol Sci. 2021, Sep 7;22(18):9659. doi: 10.3390/ijms22189659.
36. Bordyugova EV, Dubovaya AV, Usenko NA. Combination of congenital heart defects and anorectal defects in children. Practical medicine. 2022; 20(2):37–44 (in Russian). DOI: 10.32000/2072-1757-2022-2-37-44.
37. King SK., Levitt MA. Advances in the Management of the Neonate Born with an Anorectal Malformation. Clin Perinatol. 2022, Dec;49(4):965–979. doi: 10.1016/j.clp.2022.08.002.
38. Aubert O, Irvine WFE, Aminoff D., et al Guidelines on the Management of Anorectal Malformations Part I: Diagnostics. Eur J Pediatr Surg. 2024 Oct 11. doi: 10.1055/s-0044-1791250.
39. Glutig K, Veldhoen S. Developmental disorders of the gastrointestinal tract. Radiologie (Heidelb). 2024, May;64(5):392–399. doi: 10.1007/s00117-024-01302-3 (in German).
40. Kotlovsky AM, Poddubny IV, Kozlov YuA., et al. Exploring new frontiers and innovative spaces: 30th Congress of the International Pediatric Endosurgery Group (IPEG). Russian Bulletin of Pediatric Surgery, Anesthesiology and Resuscitation. 2022;12(1):99–104 (in Russian). DOI: https://doi.org/10.17816/psaic1008
41. Laje P. Report on the 33rd Annual Meeting of the International Pediatric Endosurgery Group (IPEG). J Pediatr Surg. 2024, Dec;59(12):161884. doi: 10.1016/j.jpedsurg.2024.161884.
Review
For citations:
Shcherbak V.A., Deeva V.A., Sverkunova Ya.A. Modern methods of diagnosis and treatment of congenital malformations of the gastrointestinal tract in infantis. Vestnik of North-Eastern Federal University. Medical Sciences. 2025;(4):73-84. (In Russ.) https://doi.org/10.25587/2587-5590-2025-4-73-84












