Prevalence and risk factors for congenital diaphragmatic hernia: A global view

Paoletti, Monica; Raffler, Gabriele; Gaffi, Maria Sole; Antounians, Lina; Lauriti, Giuseppe; Zani, Augusto

doi:10.1016/j.jpedsurg.2020.06.022

Cited by 66 publications

(68 citation statements)

References 99 publications

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“…While previous studies suggested an association of periconceptional maternal overweight and CDH [ 24 , 25 ] our study could not replicate this association ( P = 0.526). The studies of García et al published in 2016 [ 9 ] and Paoletti et al published in 2020 [ 10 ] revealed a significant increased risk of bearing a child with CDH for mothers with an age ≥ 35 years ( P < 0.001 and P = 0.0004). While our study did not replicate this association, median maternal age of both, case and control mothers in our study, was below 35 years of age.…”

Section: Discussionmentioning

confidence: 99%

“…The most common co-occuring malformations compromise the cardiovascular, genitourinary, gastrointestinal or the central nervous system [ 7 ]. Besides genetic factors the following environmental risk factors have been previously associated with the development of CDH: maternal body mass index (BMI) [ 8 ], maternal age [ 9 , 10 ], pre-gestational diabetes [ 11 ], maternal pre-gestational hypertension [ 12 ], pre-conceptional diet, especially riboflavin supplementation [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

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Parental risk factors for congenital diaphragmatic hernia – a large German case-control study

et al. 2021

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Background Evidence for periconceptional or prenatal environmental risk factors for the development of congenital diaphragmatic hernia (CDH) is still scarce. Here, in a case-control study we investigated potential environmental risk factors in 199 CDH patients compared to 597 healthy control newborns. Methods The following data was collected: time of conception and birth, maternal BMI, parental risk factors such as smoking, alcohol or drug intake, use of hairspray, contact to animals and parental chronic diseases. CDH patients were born between 2001 and 2019, all healthy control newborns were born in 2011. Patients and control newborns were matched in the ratio of three to one. Results Presence of CDH was significantly associated with maternal periconceptional alcohol intake (odds ratio = 1.639, 95% confidence interval 1.101–2.440, p = 0.015) and maternal periconceptional use of hairspray (odds ratio = 2.072, 95% confidence interval 1.330–3.229, p = 0.001). Conclusion Our study suggests an association between CDH and periconceptional maternal alcohol intake and periconceptional maternal use of hairspray. Besides the identification of novel and confirmation of previously described parental risk factors, our study underlines the multifactorial background of isolated CDH.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Parental risk factors for congenital diaphragmatic hernia – a large German case-control study

et al. 2021

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“…Only a few of these genes are mutated recurrently in multiple individuals and even then the phenotype can differ largely due to incomplete penetrance. CDH has a prevalence of 2.3-2.7 per 10.000 live births (2)(3)(4) and can present as isolated CDH or in association with additional congenital anomalies (non-isolated CDH or complex CDH), as seen in ∼40 (5) to 49% (6) of the cases. Complex CDH may present as part of a recognizable genetic syndrome, chromosome abnormality, or a collection of major congenital malformations.…”

Section: Introductionmentioning

confidence: 99%

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

et al. 2021

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Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a BCL11B missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis. We applied targeted sequencing of BCL11B in patients with craniosynostosis or with a combination of craniosynostosis and CDH. This resulted in three additional BCL11B missense mutations in patients with craniosynostosis. The phenotype of the patient with both CDH as well as craniosynostosis was similar to the phenotype of previously reported patients with BCL11B missense mutations. Although these findings imply that both craniosynostosis as well as CDH may be associated with BCL11B mutations, further studies are required to establish whether BCL11B variants are causative mutations for both conditions or if our finding was coincidental.

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“…Congenital diaphragmatic hernia (CDH) is a rare condition in neonates with a prevalence of 2.3 in 10,000 births [ 4 ]. Any disturbance in the pleuroperitoneal membranes before the 12th week of gestation may result in a diaphragmatic defect.…”

Section: Introductionmentioning

confidence: 99%

Perspective on Similarities and Possible Overlaps of Congenital Disease Formation—Exemplified on a Case of Congenital Diaphragmatic Hernia and Neuroblastoma in a Neonate

et al. 2021

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The coincidence of two rare diseases such as congenital diaphragmatic hernia (CDH) and neuroblastoma is exceptional. With an incidence of around 2–3:10,000 and 1:8000 for either disease occurring on its own, the chance of simultaneous presentation of both pathologies at birth is extremely low. Unfortunately, the underlying processes leading to congenital malformation and neonatal tumors are not yet thoroughly understood. There are several hypotheses revolving around the formation of CDH and neuroblastoma. The aim of our study was to put the respective hypotheses of disease formation as well as known factors in this process into perspective regarding their similarities and possible overlaps of congenital disease formation. We present the joint occurrence of these two rare diseases based on a patient presentation and immunochemical prognostic marker evaluation. The aim of this manuscript is to elucidate possible similarities in the pathogeneses of both disease entities. Discussed are the role of toxins, cell differentiation, the influence of retinoic acid and NMYC as well as of hypoxia. The detailed discussion reveals that some of the proposed pathophysiological mechanisms of both malformations have common aspects. Especially disturbances of the retinoic acid pathway and NMYC expression can influence and disrupt cell differentiation in either disease. Due to the rarity of both diseases, interdisciplinary efforts and multi-center studies are needed to investigate the reasons for congenital malformations and their interlinkage with neonatal tumor disease.

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Prevalence and risk factors for congenital diaphragmatic hernia: A global view

Cited by 66 publications

References 99 publications

Parental risk factors for congenital diaphragmatic hernia – a large German case-control study

Parental risk factors for congenital diaphragmatic hernia – a large German case-control study

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

Perspective on Similarities and Possible Overlaps of Congenital Disease Formation—Exemplified on a Case of Congenital Diaphragmatic Hernia and Neuroblastoma in a Neonate

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