Stolar, C. J. H., Dillion, P. W. in Pediatric Surgery (eds. Grosfeld, L., O’Neill J. A., Fonkalsrud E. W. & Coran, A. G.). 809–824 (Mosby, 2012).
Zani, A. & Cozzi, D. A. Giovanni Battista Morgagni and his contribution to pediatric surgery. J. Pediatr. Surg. 43, 729–733 (2008).
Montalva, L., Zani, A. in Pearls and Tricks in Pediatric Surgery (eds Lacher, M., St. Peter, S. D. & Zani, A.). 25–34 (Springer, 2021).
Donahoe, P. K., Longoni, M. & High, F. A. Polygenic causes of Congenital Diaphragmatic Hernia produce common lung pathologies. Am. J. Pathol. 186, 2532–2543 (2016). This comprehensive review paper describes the pathogenesis of CDH, specifying cellular and molecular level alterations in fetal hypoplastic lungs.
PubMed PubMed Central Google Scholar
Byrne, F. A. et al. Severe left diaphragmatic hernia limits size of fetal left heart more than does right diaphragmatic hernia. Ultrasound Obstet. Gynecol. 46, 688–694 (2015).
Ferguson, D. M. et al. Early, postnatal pulmonary hypertension severity predicts inpatient outcomes in congenital diaphragmatic hernia. Neonatology 118, 147–154 (2021).
Patel, N. et al. Ventricular dysfunction is a critical determinant of mortality in congenital diaphragmatic hernia. Am. J. Respir. Crit. Care. Med. 200, 1522–1530 (2019). This multicentre prospective study showed that early postnatal ventricular dysfunction occurs frequently in infants with CDH and can be used as an independent marker of severity and clinical outcome.
Harting, M. T. & Lally, K. P. The Congenital Diaphragmatic Hernia Study Group registry update. Semin. Fetal Neonatal Med. 19, 370–375 (2014).
Wright, N. J. et al. Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study. Lancet 398, 325–339 (2021).
Spoel, M. et al. Lung function in young adults with congenital diaphragmatic hernia; a longitudinal evaluation. Pediatr. Pulmonol. 48, 130–137 (2013).
Putnam, L. R. et al. Congenital diaphragmatic hernia defect size and infant morbidity at discharge. Pediatrics 138, e20162043 (2016).
Jancelewicz, T. et al. Survival benefit associated with the use of extracorporeal life support for neonates with congenital diaphragmatic hernia. Ann. Surg. 275, e256–e263 (2022). This retrospective cohort study analysed the use of ECLS in a large number of patients with CDH and concluded that ECLS use is associated with a significant survival advantage in infants at high risk who are treated in centres with a high CDH volume and ECLS experience.
Faraoni, D., Nasr, V. G., DiNardo, J. A. & Thiagarajan, R. R. Hospital costs for neonates and children supported with extracorporeal membrane oxygenation. J. Pediatr. 169, 69–75.e1 (2016).
Raval, M. V., Wang, X., Reynolds, M. & Fischer, A. C. Costs of congenital diaphragmatic hernia repair in the United States-extracorporeal membrane oxygenation foots the bill. J. Pediatr. Surg. 46, 617–624 (2011).
Snyder, A. N., Cheng, T. & Burjonrappa, S. A nationwide database analysis of demographics and outcomes related to extracorporeal membrane oxygenation (ECMO) in congenital diaphragmatic hernia. Pediatr. Surg. Int. 37, 1505–1513 (2021).
Lewit, R. A. & Jancelewicz, T. Sources of regional and center-level variability in survival and cost of care for congenital diaphragmatic hernia (CDH). J. Pediatr. Surg. 56, 130–135 (2021).
Cameron, D. B. et al. Quantifying the burden of interhospital cost variation in pediatric surgery: Implications for the prioritization of comparative effectiveness research. JAMA Pediatr. 171, e163926 (2017).
Paoletti, M. et al. Prevalence and risk factors for congenital diaphragmatic hernia: a global view. J. Pediatr. Surg. 55, 2297–2307 (2020). This systematic review of the literature collates all population-based studies conducted on patients with CDH worldwide. This analysis reports the global prevalence of CDH and its associated risk factors and highlights the paucity of epidemiological studies for this condition.
McGivern, M. R. et al. Epidemiology of Congenital Diaphragmatic Hernia in Europe: a register-based study. Arch. Dis. Child. Fetal Neonatal Ed. 100, F137–F144 (2015).
Yang, W., Carmichael, S. L., Harris, J. A. & Shaw, G. M. Epidemiologic characteristics of congenital diaphragmatic hernia among 2.5 million California births, 1989-1997. Birth Defects Res. A. Clin. Mol. Teratol. 76, 170–174 (2006).
Dott, M. M., Wong, L. Y. & Rasmussen, S. A. Population-based study of congenital diaphragmatic hernia: risk factors and survival in Metropolitan Atlanta, 1968-1999. Birth Defects Res. A. Clin. Mol. Teratol. 67, 261–267 (2003).
Harrison, M. R., Bjordal, R. I., Langmark, F. & Knutrud, O. Congenital diaphragmatic hernia: the hidden mortality. J. Pediatr. Surg. 13, 227–230 (1978).
Burgos, C. M. & Frenckner, B. Addressing the hidden mortality in CDH: a population-based study. J. Pediatr. Surg. 52, 522–525 (2017).
Gallot, D. et al. Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France. Eur. J. Obstet. Gynecol. Reprod. Biol. 125, 202–205 (2006).
Balayla, J. & Abenhaim, H. A. Incidence, predictors and outcomes of congenital diaphragmatic hernia: a population-based study of 32 million births in the United States. J. Matern. Fetal Neonatal Med. 27, 1438–1444 (2014).
Bétrémieux, P. et al. Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study. Prenat. Diagn. 24, 487–493 (2004).
Hautala, J. et al. Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland. Acta Obstet. Gynecol. Scand. 97, 204–211 (2018).
Lee, H. S., Dickinson, J. E., Tan, J. K., Nembhard, W. & Bower, C. Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes. Prenat. Diagn. 38, 1004–1012 (2018).
Doné, E. et al. Prenatal diagnosis, prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia. Prenat. Diagn. 28, 581–591 (2008).
Zaiss, I. et al. Associated malformations in congenital diaphragmatic hernia. Am. J. Perinatol. 28, 211–218 (2011).
Ladd, W. E. & Gross, R. E. Congenital diaphragmatic hernia. N. Engl. J. Med. 223, 917–925 (1940).
Gross, R. E. The Surgery of Infancy and Childhood (WB Saunders Company; 1953).
Gupta, V. S. et al. Mortality in congenital diaphragmatic hernia: a multicenter registry study of over 5000 patients over 25 years. Ann. Surg. https://doi.org/10.1097/SLA.0000000000005113 (2021).
The Canadian Pediatric Surgery Network. CAPSNet 2019 Annual Report 2019 (CAPSNet, 2019).
Bhat, Y. R., Kumar, V. & Rao, A. Congenital diaphragmatic hernia in a developing country. Singap. Med. J. 49, 715–718 (2008).
Ekenze, S. O., Ajuzieogu, O. V. & Nwomeh, B. C. Challenges of management and outcome of neonatal surgery in Africa: a systematic review. Pediatr. Surg. Int. 32, 291–299 (2016).
Ammar, S. et al. Risk factors of early mortality after neonatal surgery in Tunisia. J. Pediatr. Surg. 55, 2233–2237 (2020).
Pober, B. R. Genetic aspects of human congenital diaphragmatic hernia. Clin. Genet. 74, 1–15 (2008).
CAS PubMed PubMed Central Google Scholar
Oh, T., Chan, S., Kieffer, S. & Delisle, M. F. Fetal outcomes of prenatally diagnosed congenital diaphragmatic hernia: nine years of clinical experience in a canadian tertiary hospital. J. Obstet. Gynaecol. Can. 38, 17–22 (2016).
Merrell, A. J. et al. Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias. Nat. Genet. 47, 496–504 (2015).
CAS PubMed PubMed Central Google Scholar
Sefton, E. M., Gallardo, M. & Kardon, G. Developmental origin and morphogenesis of the diaphragm, an essential mammalian muscle. Dev. Biol. 440, 64–73 (2018).
CAS PubMed PubMed Central Google Scholar
Lally, K. P. et al. Standardized reporting for congenital diaphragmatic hernia — an international consensus. J. Pediatr. Surg. 48, 2408–2415 (2013). This report from the CDHSG shows that the diaphragmatic defect assessed with the CDHSG staging system and presence of a severe cardiac anomaly are reliable predictors of outcome. This article highlights the importance of a standardized reporting system for CDH to conduct prospective trials in patients with this condition.
McAteer, J. P., Hecht, A., De Roos, A. J. & Goldin, A. B. Maternal medical and behavioral risk factors for congenital diaphragmatic hernia. J. Pediatr. Surg. 49, 34–38 (2014).
Kitagawa, M., Hislop, A., Boyden, E. A. & Reid, L. Lung hypoplasia in congenital diaphragmatic hernia. A quantitative study of airway, artery, and alveolar development. Br. J. Surg. 58, 342–346 (1971).
Nguyen, T. M. et al. The proportion of alveolar type 1 cells decreases in murine hypoplastic congenital diaphragmatic hernia lungs. PLoS ONE 14, e0214793 (2019).
CAS PubMed PubMed Central Google Scholar
Bargy, F., Beaudoin, S. & Barbet, P. Fetal lung growth in congenital diaphragmatic hernia. Fetal Diagn. Ther. 21, 39–44 (2006).
Geggel, R. L. et al. Congenital diaphragmatic hernia: arterial structural changes and persistent pulmonary hypertension after surgical repair. J. Pediatr. 107, 457–464 (1985).
Russell, M. K. et al. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes. Proc. Natl Acad. Sci. USA 109, 2978–2983 (2012).
CAS PubMed PubMed Central Google Scholar
Rottier, R. & Tibboel, D. Fetal lung and diaphragm development in congenital diaphragmatic hernia. Semin. Perinatol. 29, 86–93 (2005).
van Loenhout, R. B., Tibboel, D., Post, M. & Keijzer, R. Congenital diaphragmatic hernia: comparison of animal models and relevance to the human situation. Neonatology 96, 137–149 (2009).
Antounians, L., Figueira, R. L., Sbragia, L. & Zani, A. Congenital diaphragmatic hernia: state of the art in translating experimental research to the bedside. Eur. J. Pediatr. Surg. 29, 317–327 (2019).
Wynn, J., Yu, L. & Chung, W. K. Genetic causes of congenital diaphragmatic hernia. Semin. Fetal Neonatal Med. 19, 324–330 (2014).
留言 (0)