Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
revised:
25
06
2023
received:
05
03
2023
accepted:
04
07
2023
medline:
14
9
2023
pubmed:
7
7
2023
entrez:
7
7
2023
Statut:
ppublish
Résumé
The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH. Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features. A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non-syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister-Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis. The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non-repair (53%). The length of hospital stay was longer, and larger number of patients needed O Syndromic CDH is rare and only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non-repair and decreased extracorporeal life support use, along with a high early mortality, decision-making regarding goals of care clearly influences outcomes. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision-making.
Sections du résumé
BACKGROUND
The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.
METHODS
Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.
RESULTS
A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non-syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister-Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis. The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non-repair (53%). The length of hospital stay was longer, and larger number of patients needed O
CONCLUSION
Syndromic CDH is rare and only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non-repair and decreased extracorporeal life support use, along with a high early mortality, decision-making regarding goals of care clearly influences outcomes. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision-making.
Types de publication
Multicenter Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1265-1273Informations de copyright
© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
Bielinska M, Jay PY, Erlich JM, et al. Pediatric Surgery; 2006.2146.
Bielinska M, Jay PY, Erlich JM, et al. Molecular genetics of congenital diaphragmatic defects. Ann Med. 2007;39(4):261-274. https://doi.org/10.1080/07853890701326883
Pober BR. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet. 2007;145C(2):158-171. https://doi.org/10.1002/ajmg.c.30126
Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet. 2008;74(1):1-15. https://doi.org/10.1111/j.1399-0004.2008.01031.x
Scott DA. Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg. 2007;16(2):88-93. https://doi.org/10.1053/j.sempedsurg.2007.01.003
Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005;29(2):77-85. https://doi.org/10.1053/j.semperi.2005.04.003
Klaassens M, Galjaard RJ, Scott DA, et al. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. Am J Med Genet. 2007;143A(18):2204-2212. https://doi.org/10.1002/ajmg.a.31892
Beurskens N, Klaassens M, Rottier R, Klein A, Tibboel D. Linking animal models to human congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol. 2007;79(8):565-572. https://doi.org/10.1002/bdra.20370
Clugston RD, Klattig J, Englert C, et al. Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis. Am J Pathol. 2006;169(5):1541-1549. https://doi.org/10.2353/ajpath.2006.060445
Kluth D, Kangah R, Reich P, Tenbrinck R, Tibboel D, Lambrecht W. Nitrofen-induced diaphragmatic hernias in rats: an animal model. J Pediatr Surg. 1990;25(8):850-854. https://doi.org/10.1016/0022-3468(90)90190-k
Major D, Cadenas M, Fournier L, Leclerc S, Lefebvre M, Cloutier R. Retinol status of newborn infants with congenital diaphragmatic hernia. Pediatr Surg Int. 1998;13(8):547-549. https://doi.org/10.1007/s003830050399
Dooren MF, Goemaere NN, Klein A, Tibboel D, Krijger RR. Postmortem findings and clinicopathological correlation in congenital diaphragmatic hernia. Pediatr Dev Pathol. 2004;7(5):459-467. https://doi.org/10.1007/s10024-004-1118-5
Neville HL, Jaksic T, Wilson JM, et al. Fryns syndrome in children with congenital diaphragmatic hernia. J Pediatr Surg. 2002;37(12):1685-1687.
Gupta VS, Khan AM, Ebanks AH, et al. Cornelia de Lange syndrome and congenital diaphragmatic hernia. J Pediatr Surg. 2021;56(4):697-699. https://doi.org/10.1016/j.jpedsurg.2020.06.003
Mullins DA, Abel MF, Blanco JS, Fryburg JS. Familial synspondylism: progressive scoliosis and multiple hernias in a kinship. J Pediatr Orthop. 1998;18(5):606-610. https://doi.org/10.1097/00004694-199809000-00010
Aboud MJ, Al-Shamsy MM. Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. Pediatr Surg Int. 2011;27(6):567-571. https://doi.org/10.1007/s00383-010-2831-y
Stoll C, Dott B, Alembik Y, Roth MP. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet. 2015;58(12):674-680. https://doi.org/10.1016/j.ejmg.2015.11.003
Unolt M, DiCairano L, Schlechtweg K, et al. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet. 2017;173(1):135-142. https://doi.org/10.1002/ajmg.a.37980
Alsat EA, Reutter H, Bagci S, et al. Congenital diaphragmatic hernia in a case of Cat eye syndrome. Clin Case Rep. 2018;6(9):1786-1790. https://doi.org/10.1002/ccr3.1646
Chong K, Saleh M, Injeyan M, Miron I, Fong K, Shannon P. Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. Prenat Diagn. 2018;38(2):117-122. https://doi.org/10.1002/pd.5198
Dworschak GC, Engels H, Becker J, et al. De novo duplication of 11p15 associated with congenital diaphragmatic hernia. Frontiers in pediatrics. 2018;6:116. https://doi.org/10.3389/fped.2018.00116
Kammoun M, Brady P, De Catte L, Deprest J, Devriendt K, Vermeesch JR. Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? Eur J Hum Genet. 2018;26(3):359-366. https://doi.org/10.1038/s41431-017-0032-z
Brosens E, Peters NCJ, Weelden KS, et al. Unraveling the genetics of congenital diaphragmatic hernia: an ongoing challenge. Frontiers in pediatrics. 2021;9:800915. https://doi.org/10.3389/fped.2021.800915
Qi H, Yu L, Zhou X, et al. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet. 2018;14(12):e1007822. https://doi.org/10.1371/journal.pgen.1007822
Kehrer C, Hoischen A, Menkhaus R, et al. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. Prenat Diagn. 2016;36(10):961-965. https://doi.org/10.1002/pd.4920
Chen CP, Wang YL, Chern SR, et al. Prenatal diagnosis and array comparative genomic hybridization characterization of trisomy 21 in a fetus associated with right congenital diaphragmatic hernia and a review of the literature of chromosomal abnormalities associated with congenital diaphragmatic hernia. Taiwan J Obstet Gynecol. 2015;54(1):66-70. https://doi.org/10.1016/j.tjog.2014.12.001
Lally KP, Lasky RE, Lally PA, et al. Standardized reporting for congenital diaphragmatic hernia--an international consensus. J Pediatr Surg. 2013;48(12):2408-2415. https://doi.org/10.1016/j.jpedsurg.2013.08.014
Burgos CM, Frenckner B. Addressing the hidden mortality in CDH: a population-based study. J Pediatr Surg. 2017;52(4):522-525. https://doi.org/10.1016/j.jpedsurg.2016.09.061