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

Schulz, Felicitas; Jenetzky, Ekkehart; Zwink, Nadine; Bendixen, Charlotte; Kipfmueller, Florian; Rafat, Neysan; Heydweiller, Andreas; Wessel, Lucas; Reutter, Heiko; Müeller, Andreas; Schaible, Thomas

doi:10.1186/s12887-021-02748-3

Cited by 15 publications

(11 citation statements)

References 29 publications

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“…Maternal morbidities during pregnancy such as pre-gestational hypertension ( 66 ) and pre-existent maternal obesity ( 67 – 69 ) are associated with an increased risk for development of CDH in the fetus. Several other environmental factors have been associated with an increased risk: antidepressant medication ( 70 ), antibacterial medication ( 71 ), exposure to fungicides ( 72 ), the immunosuppressant drug mycophenolate mofetil ( 73 ), methotrexate use ( 74 ), exposure to cadmium ( 75 ), pesticides ( 76 ), hairspray use ( 77 ), alcohol intake ( 69 , 77 – 79 ), and smoking ( 75 , 78 , 80 ). However, to what extent these associations impact diaphragm development and the onset of CDH is not known.…”

Section: Cdh Is a Complex Genetic Disordermentioning

confidence: 99%

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

et al. 2022

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Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly in which the diaphragm has not developed properly. It may occur either as an isolated anomaly or with additional anomalies. It is thought to be a multifactorial disease in which genetic factors could either substantially contribute to or directly result in the developmental defect. Patients with aneuploidies, pathogenic variants or de novo Copy Number Variations (CNVs) impacting specific genes and loci develop CDH typically in the form of a monogenetic syndrome. These patients often have other associated anatomical malformations. In patients without a known monogenetic syndrome, an increased genetic burden of de novo coding variants contributes to disease development. In early years, genetic evaluation was based on karyotyping and SNP-array. Today, genomes are commonly analyzed with next generation sequencing (NGS) based approaches. While more potential pathogenic variants are being detected, analysis of the data presents a bottleneck—largely due to the lack of full appreciation of the functional consequence and/or relevance of the detected variant. The exact heritability of CDH is still unknown. Damaging de novo alterations are associated with the more severe and complex phenotypes and worse clinical outcome. Phenotypic, genetic—and likely mechanistic—variability hampers individualpatient diagnosis, short and long-term morbidity prediction and subsequent care strategies. Detailed phenotyping, clinical follow-up at regular intervals and detailed registries are needed to find associations between long-term morbidity, genetic alterations, and clinical parameters. Since CDH is a relatively rare disorder with only a few recurrent changes large cohorts of patients are needed to identify genetic associations. Retrospective whole genome sequencing of historical patient cohorts using will yield valuable data from which today's patients and parents will profit Trio whole genome sequencing has an excellent potential for future re-analysis and data-sharing increasing the chance to provide a genetic diagnosis and predict clinical prognosis. In this review, we explore the pitfalls and challenges in the analysis and interpretation of genetic information, present what is currently known and what still needs further study, and propose strategies to reap the benefits of genetic screening.

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Section: Cdh Is a Complex Genetic Disordermentioning

confidence: 99%

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

et al. 2022

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“…This is the greatest clinical challenge these patients encounter. Previous studies on congenital diaphragmatic hernia have shown that maternal age and the male gender are the two most important risk factors (Akhmedov Yu.M, 2021;Paoletti et al, 2020;Schulz et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

Predictors of congenital diaphragmatic hernia in newborns

Ahmedov¹,

Akhmedov²,

Fayzullayev³

et al. 2022

ijhs

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Congenital diaphragmatic hernia (CDH) is a disorder that is defined by a rupture of the diaphragm, which permits an abdominal hernia to enter the chest space. This disease may be present from birth. Our objective was to identify the features of a person that placed them at a higher risk for developing CDH. A case control study design was used to collect data from the registry for 66 people who had been diagnosed with CDH. The data were acquired from the registry. CDH infants were more likely to be preterm (OR, 3.79; 95 percent CI, 2.01-7.21) and weigh lower than 2500 gr at birth (OR, 3.32; 95 percent CI, 1.65-5.89). Maternal age of 35 years or older (OR, 3.51; 95 % CI, 1.49-6.12) and being small for gestational age (OR, 3.71; 95 % CI, 1.87-6.69) were associated with increased odds of having a CDH infant. Being preterm and small for gestational age as well as low birth weight were independent risk factors for congenital diaphragmal hernia. The chance of having a child born with CDH rises with the mother's age.

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“…Specifically, cigarette smoking and alcohol consumption, two rather common exposures during pregnancy (England et al, 2020; Kondracki, 2019), have been shown to influence retinol signaling (Kardon et al, 2017; Limpach, Dalton, Miles, & Gadson, 2000; Manoli et al, 2012; Ozerol, Ozerol, Gokdeniz, Temel, & Akyol, 2004; Refsum, 2001). Most previous studies examining these exposures and CDH in offspring had several limitations, including lacking examination of associations for quantity, frequency, or duration of these exposures and associations of these exposures withCDH subtypes (Balayla & Abenhaim, 2014; Felix et al, 2008; García, Machicado, Gracia, & Zarante, 2016; Honein, Paulozzi, & Watkins, 2001; McAteer, Hecht, De Roos, & Goldin, 2014; Mesas Burgos, Ehrén, Conner, & Frenckner, 2019; Ramakrishnan et al, 2018; Schulz et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia

Finn

Suhl

Kancherla

et al. 2022

Birth Defects Research

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Background: Congenital diaphragmatic hernia (CDH) occurs when abnormal diaphragm development allows herniation of abdominal organs into the thoracic cavity. Its etiopathogenesis is not well understood, but cigarette smoking and alcohol exposure may impact diaphragm development. Using data from a large, population-based case-control study, we examined associations between maternal cigarette smoking and alcohol consumption and CDH in offspring.Methods: We analyzed maternal interview reports of cigarette smoking and alcohol consumption during early pregnancy for 831 children with CDH and 11,416 children without birth defects with estimated dates of delivery during 1997-2011. Generalized linear mixed effects models with a random intercept for study site were used to estimate associations between measures of exposure to smoking (any, type, frequency, duration) and alcohol (any, quantity, frequency, variability, type) for all CDH combined and selected subtypes (Bochdalek and Morgagni).Results: Mothers of 280 (34.0%) case and 3,451 (30.3%) control children reported early pregnancy exposure to cigarette smoking. Adjusted odds ratios Julia Finn and Jonathan Suhl contributed equally to this study.

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

Cited by 15 publications

References 29 publications

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

Predictors of congenital diaphragmatic hernia in newborns

Maternal cigarette smoking and alcohol consumption and congenital diaphragmatic hernia

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