Diagnóstico prenatal de hernia diafragmática congénita. Revisión sistemática [Prenatal diagnosis of congenital diaphragmatic hernia. Systematic review]
DOI:
https://doi.org/10.62574/jhb87t97Palabras clave:
hernia, hernia diaphragmatic, hernia diafragmática traumáticaResumen
Objetivo: analizar el diagnóstico prenatal de hernia diafragmática congénita. Método: Revisión sistemática. Resultados y conclusión: El diagnóstico prenatal de la hernia diafragmática congénita ha experimentado avances significativos gracias a la evolución de las modalidades imagenológicas y a una comprensión más profunda de los determinantes genéticos y mecanismos moleculares subyacentes. La integración de la ultrasonografía y la resonancia magnética fetal, junto con los estudios genómicos y la identificación de biomarcadores en líquido amniótico, ha optimizado la precisión diagnóstica y la estratificación pronóstica.
Descargas
Referencias
Schreiner Y, Schaible T, Rafat N. Genetics of diaphragmatic hernia. Eur J Hum Genet [Internet]. 2021;29(12):1729. Available from: /pmc/articles/PMC8632982/
Malaquias LC, Dias GA da S, Cunha K da C, Cei NVS, Valente E da CB, Guimarães AGM. Hérnia diafragmática congênita: aspectos clínico-hospitalares em um hospital de referência materno-infantil na região Amazônica. Fisioter Pesqui (Online) [Internet]. 2020;27(4):392–8. Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1809-29502020000400392
Quinteros Sch A, Bancalari MA. Hernia diafragmática congénita en recién nacidos. Rev Chil Pediatr [Internet]. 2001;72(1):19–25.
Koh WH, Ko PJ, Su YT, Tsai YC, Kek HP, Tsai CC. Unmasking a hidden culprit: late-presenting congenital diaphragmatic hernia beyond infancy: A case report and literature review. Medicine (Baltimore) [Internet]. 2024;103(12):e37450–e37450. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10956999
Zolin SJ, Fafaj A, Alaedeen D. Diaphragmatic hernia. In: Fundamentals of hernia radiology [Internet]. 2023;277–89. Available from: https://www.ncbi.nlm.nih.gov/books/NBK536952/
Lakshminrusimha S, Vali P. Congenital diaphragmatic hernia: 25 years of shared knowledge; what about survival? J Pediatr (Rio J) [Internet]. 2020;96(5):527. Available from: /pmc/articles/PMC7162701/
Soltys FC, Spilo K, Politi MC. The content and quality of publicly available information about congenital diaphragmatic hernia: descriptive study. JMIR Pediatr Parent [Internet]. 2021;4(4):e30695. Available from: http://www.ncbi.nlm.nih.gov/pubmed/34665147
Plaksin SA, Kotelnikova LP. Diagnostics and surgical treatment of Bochdalek hernia in adults. Khirurgiia (Mosk) [Internet]. 2023;(6):48–55. Available from: https://dx.doi.org/10.17116/hirurgia202306148
Cannata G, Caporilli C, Grassi F, Perrone S, Esposito S. Management of congenital diaphragmatic hernia (CDH): role of molecular genetics. Int J Mol Sci [Internet]. 2021;22(12):6353. Available from: https://www.mdpi.com/1422-0067/22/12/6353/htm
Shi HQ, Chen WJ, Yin Q, Zhang XH. Ultrasound diagnosis of congenital Morgagni hernias: ten years of experience at two Chinese centers. World J Clin Cases [Internet]. 2024;12(3):495. Available from: /pmc/articles/PMC10841961/
Aiello H, Meller C, Vázquez L, Otaño L. Prenatal ultrasound diagnosis of ‘stomach-down’ left congenital diaphragmatic hernia. Ultrasound Obstet Gynecol [Internet]. 2021;58(5):787–787. Available from: https://onlinelibrary.wiley.com/doi/full/10.1002/uog.24779
Jeong J, Lee BS, Cha T, Jung E, Kim EAR, Kim KS, et al. Prenatal prognostic factors for isolated right congenital diaphragmatic hernia: a single center’s experience. BMC Pediatr [Internet]. 2021;21(1). Available from: /pmc/articles/PMC8526355/
Perrone EE, Abbasi N, Cortes MS, Umar U, Ryan G, Johnson A, et al. Prenatal assessment of congenital diaphragmatic hernia at North American Fetal Therapy Network centers: a continued plea for standardization. Prenat Diagn [Internet]. 2021;41(2):200–6. Available from: https://onlinelibrary.wiley.com/doi/full/10.1002/pd.5859
Caro-Domínguez P, Victoria T, Ciet P, de la Torre E, Toscano ÁC, Diaz LG, et al. Prenatal ultrasound, magnetic resonance imaging and therapeutic options for fetal thoracic anomalies: a pictorial essay. Pediatr Radiol [Internet]. 2023;53(10):2106–19. Available from: https://link.springer.com/article/10.1007/s00247-023-05681-y
Neștianu EG, Brădeanu CG, Alexandru DO, Vlădăreanu R. The necessity of magnetic resonance imaging in congenital diaphragmatic hernia. Diagnostics [Internet]. 2022;12(7). Available from: /pmc/articles/PMC9320675/
Neștianu E, Brădeanu CG, Drăgan I, Vlădăreanu R. The benefits of MRI in the prenatal diagnosis of congenital diaphragmatic hernia. Maedica (Bucur) [Internet]. 2021;16(3):368. Available from: /pmc/articles/PMC8643549/
Danzer E, Eppley E, Edgar JC, Hoffman C, Goldshore MA, Adzick NS, et al. Effects of 1.5-T versus 3-T magnetic resonance imaging in fetuses: is there a difference in postnatal neurodevelopmental outcome? Evaluation in a fetal population with left-sided congenital diaphragmatic hernia. Pediatr Radiol [Internet]. 2023;53(6):1085–91. Available from: https://link.springer.com/article/10.1007/s00247-023-05629-2
Bhutada S, Tran-Lundmark K, Kramer B, Conner P, Lowry AM, Blackstone E, et al. Identification of protein biomarkers associated with congenital diaphragmatic hernia in human amniotic fluid. Sci Rep [Internet]. 2023;13(1). Available from: /pmc/articles/PMC10509251/
Scott DA, Gofin Y, Berry AM, Adams AD. Underlying genetic etiologies of congenital diaphragmatic hernia. Prenat Diagn [Internet]. 2022;42(3):373. Available from: /pmc/articles/PMC8924940/
Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, et al. Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet [Internet]. 2022;59(3):270. Available from: /pmc/articles/PMC8286264/
Bendixen C, Brosens E, Chung WK. Genetic diagnostic strategies and counseling for families affected by congenital diaphragmatic hernia. Eur J Pediatr Surg [Internet]. 2021;31(6):472–81. Available from: http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1740337
Tan TS, Chen CP, Chen CY. Prenatal diagnosis of left side congenital diaphragmatic hernia associated with gastric perforation. Taiwan J Obstet Gynecol. 2021;60(2):370–2.
Rattan KN, Singh J, Dalal P. Diagnostic challenges in late-presenting congenital diaphragmatic hernia: a 16-year experience from tertiary care centre in North India. Trop Doct [Internet]. 2019;49(2):138–41.
Wild KT, Schindewolf E, Hedrick HL, et al. The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective Review. J Pediatr. 2022;248:108-113.e2. doi:10.1016/j.jpeds.2022.04.012
Donahoe PK, Longoni M, High FA. Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol. 2016;186(10):2532-2543. doi:10.1016/j.ajpath.2016.07.006
Yu L, Hernan RR, Wynn J, Chung WK. The influence of genetics in congenital diaphragmatic hernia. Semin Perinatol. 2020;44(1):151169. doi:10.1053/j.semperi.2019.07.008
DeKoninck P, Gomez O, Sandaite I, et al. Right-sided congenital diaphragmatic hernia in a decade of fetal surgery. BJOG. 2015;122(7):940-946. doi:10.1111/1471-0528.13065
Doktor F, Antounians L, Miller J, et al. Seasonal Variation of Congenital Diaphragmatic Hernia: A Review of the Literature and Database Report from the United States and Canada. Eur J Pediatr Surg. 2023;33(1):11-16. doi:10.1055/a-1905-4808
Rivas JFG, Clugston RD. The etiology of congenital diaphragmatic hernia: the retinoid hypothesis 20 years later. Pediatr Res. 2024;95(4):912-921. doi:10.1038/s41390-023-02905-7
Lingappan K, Olutoye OO 2nd, Cantu A, et al. Molecular insights using spatial transcriptomics of the distal lung in congenital diaphragmatic hernia. Am J Physiol Lung Cell Mol Physiol. 2023;325(4):L477-L486. doi:10.1152/ajplung.00154.2023
Publicado
Número
Sección
Licencia
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.
CC BY-NC-SA : Esta licencia permite a los reutilizadores distribuir, remezclar, adaptar y construir sobre el material en cualquier medio o formato solo con fines no comerciales, y solo siempre y cuando se dé la atribución al creador. Si remezcla, adapta o construye sobre el material, debe licenciar el material modificado bajo términos idénticos.
