Outcomes of Congenital Diaphragmatic Hernia in One of the Twins

Wang, Weipeng; Pan, Weihua; Chen, Jie; Xie, Wei; Liu, Ming; Wang, Jun

doi:10.1055/s-0038-1676830

Cited by 14 publications

(21 citation statements)

References 18 publications

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“…Subsequently, the lung area (in square millimeters) can be divided by the head circumference (in millimeters) to obtain the lung-to-head ratio. 22 According to the study by Oluyomi-Obi et al, 23 the o/e TFLV using the longest diameter measurement method was slightly superior to o/e LHR. However, this apparent difference disappeared when LHR was measured by the trace method.…”

Section: Prenatal Ultrasound Imagingmentioning

confidence: 95%

Predicting Perinatal Outcomes in Fetuses with Congenital Diaphragmatic Hernia Using Ultrasound and Magnetic Resonance Imaging

Huang

Liu

et al. 2021

Maternal-Fetal Medicine

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Congenital diaphragmatic hernia is a congenital fetal disease, which mainly causes pulmonary hypoplasia and pulmonary hypertension. Effective early prenatal diagnosis can detect and predict the prognosis of congenital diaphragmatic hernia in infants, thus provide a reference for prenatal counseling, early intervention, and potential choices for the child's family. Ultrasound and magnetic resonance imaging are the most commonly used methods for non-invasive examination of the fetus. This paper discusses evaluation parameters based on these two imaging modalities.

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Section: Prenatal Ultrasound Imagingmentioning

confidence: 95%

Predicting Perinatal Outcomes in Fetuses with Congenital Diaphragmatic Hernia Using Ultrasound and Magnetic Resonance Imaging

Huang

Liu

et al. 2021

Maternal-Fetal Medicine

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“…Singletons versus multiples: there is uncertainty about whether the survival in twins with CAs is lower than that in singletons. [34][35][36][37] Hence, all survival analyses were performed on singletons alone and then multiples and singletons combined (multiples were not analysed alone as for many registries small numbers would limit the analyses that could be performed). This enables the survival of singletons and multiples in children with CAs to be analysed in detail.…”

Section: Work Of the Standardisation Committeementioning

confidence: 99%

EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies

et al. 2021

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IntroductionCongenital anomalies (CAs) are a major cause of infant mortality, childhood morbidity and long-term disability. Over 130 000 children born in Europe every year will have a CA. This paper describes the EUROlinkCAT study, which is investigating the health and educational outcomes of children with CAs for the first 10 years of their lives.Methods and analysisEUROCAT is a European network of population-based registries for the epidemiological surveillance of CAs. EUROlinkCAT is using the EUROCAT infrastructure to support 22 EUROCAT registries in 14 countries to link their data on births with CAs to mortality, hospital discharge, prescription and educational databases. Once linked, each registry transforms their case data into a common data model (CDM) format and they are then supplied with common STATA syntax scripts to analyse their data. The resulting aggregate tables and analysis results are submitted to a central results repository (CRR) and meta-analyses are performed to summarise the results across all registries. The CRR currently contains data on 155 594 children with a CA followed up to age 10 from a population of 6 million births from 1995 to 2014.EthicsThe CA registries have the required ethics permissions for routine surveillance and transmission of anonymised data to the EUROCAT central database. Each registry is responsible for applying for and obtaining additional ethics and other permissions required for their participation in EUROlinkCAT.DisseminationThe CDM and associated documentation, including linkage and standardisation procedures, will be available post-EUROlinkCAT thus facilitating future local, national and European-level analyses to improve healthcare. Recommendations to improve the accuracy of routinely collected data will be made.Findings will provide evidence to inform parents, health professionals, public health authorities and national treatment guidelines to optimise diagnosis, prevention and treatment for these children with a view to reducing health inequalities in Europe.

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“…The exact heritability—the contribution of genetic factors—is difficult to determine, in light of the relatively low disease incidence, the high mortality limiting vertical transmission and the limited numbers of twin pregnancies ( 92 , 93 ). Heritability can be estimated using twin studies.…”

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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Outcomes of Congenital Diaphragmatic Hernia in One of the Twins

Cited by 14 publications

References 18 publications

Predicting Perinatal Outcomes in Fetuses with Congenital Diaphragmatic Hernia Using Ultrasound and Magnetic Resonance Imaging

Predicting Perinatal Outcomes in Fetuses with Congenital Diaphragmatic Hernia Using Ultrasound and Magnetic Resonance Imaging

EUROlinkCAT protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge

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