Genetic burden and multidimensional predictors in prenatal diagnosis of fetal congenital diaphragmatic hernia

Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ and D. R. Beier. 2005. ‘Fog2 is required for normal diaphragm and lung development in mice and humans’. PLoS Genet, 1: 58–65

Basurto D, Russo FM, Papastefanou I, Bredaki E, Allegaert K, Pertierra A, Debeer A, De Catte L, Lewi L, Devlieger R, De Coppi P, Gratacos E, Gomez O, Deprest J (2022) Pulmonary hypertension in congenital diaphragmatic hernia: antenatal prediction and impact on neonatal mortality. Prenat Diagn 42:1303–1311

Article  CAS  PubMed  Google Scholar 

Beurskens LW, Tibboel D, Steegers-Theunissen RP (2009) Role of nutrition, lifestyle factors, and genes in the pathogenesis of congenital diaphragmatic hernia: human and animal studies. Nutr Rev 67:719–730

Article  PubMed  Google Scholar 

Beurskens LW, Tibboel D, Lindemans J, Duvekot JJ, Cohen-Overbeek TE, Veenma DC, de Klein A, Greer JJ (2010) and R. P. Steegers-Theunissen. ‘Retinol status of newborn infants is associated with congenital diaphragmatic hernia’. Pediatrics 126: 712 – 20

Boisson M, Cordier AG, Martinovic J, Receveur A, Mouka A, Diot R, Egoroff C, Esnault G, Drevillon L, Benachi A, Tachdjian G, Tosca L (2022) Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia. Prenat Diagn 42:1627–1635

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brady PD, DeKoninck P, Fryns JP, Devriendt K, Deprest JA, Vermeesch JR (2013) Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. Prenat Diagn 33:1283–1292

Article  CAS  PubMed  Google Scholar 

Brindle ME, Cook EF, Tibboel D, Lally PA, Lally KP, and Group Congenital Diaphragmatic Hernia Study (2014). ‘A clinical prediction rule for the severity of congenital diaphragmatic hernias in newborns’. Pediatrics, 134: e413-9

Chatterjee D, Ing RJ, Gien J (2020) ‘Update on Congenital Diaphragmatic Hernia’. Anesth Analg, 131: 808 – 21

Deprest J, Brady P, Nicolaides K, Benachi A, Berg C, Vermeesch J, Gardener G, Gratacos E (2014) Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Semin Fetal Neonatal Med 19:338–348

Article  PubMed  Google Scholar 

Deprest JA, Nicolaides KH, Benachi A, Total Trial for Severe Hypoplasia Investigators (2021) Fetal surgery for severe left diaphragmatic hernia. Reply. N Engl J Med 385:2112

PubMed  Google Scholar 

Didier RA, Oliver ER, Rungsiprakarn P, Debari SE, Adams SE, Hedrick HL, Adzick NS, Khalek N, Howell LJ, Coleman BG (2021) Decreased neonatal morbidity in ‘stomach-down’ left congenital diaphragmatic hernia: implications of prenatal ultrasound diagnosis for counseling and postnatal management. Ultrasound Obstet Gynecol 58:744–749

Article  CAS  PubMed  Google Scholar 

Gofin Y, Zhao X, Gerard A, Scaglia F, Wangler MF, Schrier Vergano SA, Scott DA (2022) Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia. Am J Med Genet A 188:2718–2723

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grivell RM, Andersen C, Dodd JM (2015) ‘Prenatal interventions for congenital diaphragmatic hernia for improving outcomes’, Cochrane Database Syst Rev, 2015: CD008925

Hernia CCD, Collaborative PS, Puligandla ED, Skarsgard M, Offringa I, Adatia R, Baird M, Bailey M, Brindle P, Chiu A, Cogswell S, Dakshinamurti H, Flageole R, Keijzer D, McMillan T, Oluyomi-Obi T, Pennaforte T, Perreault B, Piedboeuf SP, Riley G, Ryan A, Synnes and Traynor M (2018) ‘Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline’, CMAJ, 190: E103-E12

Huang R, Fu F, Guo F, Zhou H, Yu Q, Yan S, Liu L, Lu J, Ma C, Wang Y, Chen H, Wang D, Zhang Y, Jing X, Li F, Han J, Li D, Li R, Liao C (2024) Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype-phenotype correlations. Am J Obstet Gynecol MFM 6:101228

Article  CAS  PubMed  Google Scholar 

Kehl S, Siemer J, Brunnemer S, Weiss C, Eckert S, Schaible T, Sutterlin M (2014) Prediction of postnatal outcomes in fetuses with isolated congenital diaphragmatic hernias using different lung-to-head ratio measurements. J Ultrasound Med 33:759–767

Article  PubMed  Google Scholar 

Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK (2017) Genome-wide enrichment of damaging de Novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet 136:679–691

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lu Y, Yu Y, Chang J, Li M, Yang X, Zhou X, Hao N, Meng H, Li Z, Ma L, You H, Jian S, Wang Y, Li S, Yu Y, Yin K, Wang M, Jiang Y, Qi Q (2024) ‘Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia’. Prenat Diagn

Pan W, Wang W, Wu W, Xia S, Xie W, Wang X, Yin Q, Min P, Wang J (2022) Development and internal validation of a prediction model to predict survival for congenital diaphragmatic hernia in the early postnatal period. J Matern Fetal Neonatal Med 35:10613–10620

Article  PubMed  Google Scholar 

Puligandla PS, Grabowski J, Austin M, Hedrick H, Renaud E, Arnold M, Williams RF, Graziano K, Dasgupta R, McKee M, Lopez ME, Jancelewicz T, Goldin A, Downard CD, Islam S (2015) Management of congenital diaphragmatic hernia: A systematic review from the APSA outcomes and evidence based practice committee. J Pediatr Surg 50:1958–1970

Article  PubMed  Google Scholar 

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL (2020) Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American college of medical genetics and genomics (ACMG) and the clinical genome resource (ClinGen). Genet Med 22:245–257

Article  PubMed  Google Scholar 

Rimoldi M, Rinaldi B, Villa R, Cerasani J, Beltrami B, Iascone M, Silipigni R, Boito S, Gangi S, Colombo L, Porro M, Cesaretti C, Bedeschi MF (2023) Congenital diaphragmatic hernia in coffin Siris syndrome: further evidence from two cases. Am J Med Genet A 191:605–611

Article  PubMed  Google Scholar 

Schreiner Y, Schaible T, Rafat N (2021) Genetics of diaphragmatic hernia. Eur J Hum Genet 29:1729–1733

Article  PubMed  PubMed Central  Google Scholar 

Schultz CM, DiGeronimo RJ, Yoder BA, Group Congenital Diaphragmatic Hernia Study (2007) Congenital diaphragmatic hernia: a simplified postnatal predictor of outcome. J Pediatr Surg 42:510–516

Article  PubMed  Google Scholar 

Schwab ME, Dong S, Lianoglou BR, Aguilar Lucero AF, Schwartz GB, Norton ME, MacKenzie TC, Sanders SJ (2022) Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants. Am J Surg 223:182–186

Article  PubMed  Google Scholar 

Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA (2022) Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet 59:270–278

Article  CAS  PubMed  Google Scholar 

Somayyeh Heidargholizadeh G, Gulec C, Bulut G, Kalelioglu IH, Has R, Sivrikoz TS, Kalayci T, Selcuk BO, Karaman B (2025) Diagnostic contribution of conventional and molecular karyotyping in congenital diaphragmatic hernia related copy number variations. Taiwan J Obstet Gynecol 64:678–686

Article  CAS  PubMed  Google Scholar 

Stark Z, Behrsin J, Burgess T, Ritchie A, Yeung A, Tan TY, Brown NJ, Savarirayan R, Patel N (2015) SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia. Am J Med Genet A 167A:2319–2326

Article  PubMed  Google Scholar 

Temple IK, Barber JC, James RS, Burge D (1994) Diaphragmatic herniae and translocations involving 8q22 in two patients. J Med Genet 31:735–737

Article  CAS  PubMed  PubMed Central  Google Scholar 

Victoria T, Danzer E, Oliver ER, Edgar JC, Iyoob S, Partridge EA, Johnson AM, Peranteau WH, Coleman BG, Flake AW, Johnson MP, Hedrick HH and Adzick NS (2018) ‘Right Congenital Diaphragmatic Hernias: Is There a Correlation between Prenatal Lung Volume and Postnatal Survival, as in Isolated Left Diaphragmatic Hernias?‘. Fetal Diagn Ther, 43: 12–18

Weller K, Westra D, Peters NCJ, Wilke M, Van Opstal D, Feenstra I, van Drongelen J, Eggink AJ, Diderich KEM (2024) and P. L. J. DeKoninck. ‘Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort’. Prenat Diagn 44: 1288-95

Wild KT, Schindewolf E, Hedrick HL, Rintoul NE, Hartman T, Gebb J, Moldenhauer JS, Zackai EH, Krantz ID (2022) The genomics of congenital diaphragmatic hernia: A 10-Year retrospective review. J Pediatr 248:108–113 e2

Article  PubMed  Google Scholar 

Yang MN, Liu M, Wang L, Wang WP, Wu YL, Pei JD, Wan S, Yang J, Wang J, Hua XL (2021) Combined multivariate prediction on survival of infants with congenital diaphragmatic hernia. Chin J Perinat Med 24:665–670

Google Scholar 

Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Bucher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz MS and W. K. Chung. 2012. ‘De novo copy number variants are associated with congenital diaphragmatic hernia’. J Med Genet, 49: 650–659

Zani A, Chung WK, Deprest J, Harting MT, Jancelewicz T, Kunisaki SM, Patel N, Antounians L, Puligandla PS, Keijzer R (2022) Congenital diaphragmatic hernia. Nat Rev Dis Primers 8:37

Article  PubMed  Google Scholar 

Comments (0)

No login
gif