scholarly journals Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Yolanda Fernández-Perea ◽  
Lutgardo García-Díaz ◽  
Javier Sánchez ◽  
Guillermo Antiñolo ◽  
Salud Borrego
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
De Novo ◽  
Partial Trisomy ◽  
Congenital Defects ◽  
Developmental Defect ◽  
Chromosome 11 ◽  
Mortality And Morbidity

Congenital diaphragmatic hernia (CDH) is a serious birth defect with a significant mortality and morbidity. The current and constant progress in ultrasound techniques has led to the improvement of the prenatal diagnosis of this malformation. CDH is a developmental defect whose etiology is heterogeneous and takes place when the pleuroperitoneal folds and septum transversum fail to converge and fuse. Survival depends on the extent of pulmonary hypoplasia and the disease may be potentially worsened by the presence of added congenital defects. 40% of CDH cases are associated with at least one additional anomaly. The ultrasound diagnosis is established with essential signs: loss of uniform echogenicity of lungs and marked mediastinal shift. We report the case of a fetus with isolated CDH diagnosed at 21 weeks of gestation by ultrasound and confirmed by RMI, whose genetic analysis of amniotic fluid cells identified a de novo partial trisomy of the long arm of chromosome 11. Different genetic causes have been associated with CDH. Moreover, it is expectable that the use of new techniques for prenatal diagnosis will reveal novel CNVs associated with CDH and will help us to estimate the recurrence risk for this defect as well as for other associated anomalies.

scholarly journals Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

2021 ◽  
Vol 22 (12) ◽  
pp. 6353
Author(s):  
Giulia Cannata ◽  
Chiara Caporilli ◽  
Federica Grassi ◽  
Serafina Perrone ◽  
Susanna Esposito
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
De Novo ◽  
Current Knowledge ◽  
Lung Hypoplasia ◽  
Cellular Mechanisms ◽  
Major Life ◽  
Mortality And Morbidity ◽  
Functional Studies ◽  
Life Threatening

Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful de novo variants in the fetus could constitute an important tool for the medical team during pregnancy, counselling, and childbirth. A better insight into the mechanisms regulating diaphragm development and genetic causes leading to CDH appeared essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. Integrated sequencing, development, and bioinformatics strategies could direct future functional studies on CDH; could be applied to cohorts and consortia for CDH and other birth defects; and could pave the way for potential therapies by providing molecular targets for drug discovery.

Prenatal diagnosis of partial trisomy 16p and its association with congenital diaphragmatic hernia

2013 ◽  
Vol 33 (8) ◽  
pp. 797-799 ◽  
Author(s):  
Molly Strong ◽  
Matthew Garabedian ◽  
Anjana Pettigrew ◽  
Natasha Barron ◽  
Wendy Hansen
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Partial Trisomy

scholarly journals Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia

2021 ◽  
Vol 14 (1) ◽  
pp. dmm046797
Author(s):  
Louise Cleal ◽  
Sophie L. McHaffie ◽  
Martin Lee ◽  
Nick Hastie ◽  
Ofelia M. Martínez-Estrada ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Epithelial To Mesenchymal Transition ◽  
Wilms Tumor ◽  
Cell Types ◽  
Lineage Tracing ◽  
Developmental Defect ◽  
Mortality And Morbidity ◽  
Mesenchymal Transition ◽  
Expression Of Genes

ABSTRACTCongenital diaphragmatic hernia (CDH) is a relatively common developmental defect with considerable mortality and morbidity. Formation of the diaphragm is a complex process that involves several cell types, each with different developmental origins. Owing to this complexity, the aetiology of CDH is not well understood. The pleuroperitoneal folds (PPFs) and the posthepatic mesenchymal plate (PHMP) are transient structures that are essential during diaphragm development. Using several mouse models, including lineage tracing, we demonstrate the heterogeneous nature of the cells that make up the PPFs. The conditional deletion of Wilms tumor 1 homolog (Wt1) in the non-muscle mesenchyme of the PPFs results in CDH. We show that the fusion of the PPFs and the PHMP to form a continuous band of tissue involves movements of cells from both sources. The PPFs of mutant mice fail to fuse with the PHMP and exhibit increased RALDH2 (also known as ALDH1A2) expression. However, no changes in the expression of genes (including Snai1, Snai2, Cdh1 and Vim) implicated in epithelial-to-mesenchymal transition are observed. Additionally, the mutant PPFs lack migrating myoblasts and muscle connective tissue fibroblasts (TCF4+/GATA4+), suggesting possible interactions between these cell types. Our study demonstrates the importance of the non-muscle mesenchyme in development of the diaphragm.

scholarly journals Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia

2020 ◽  
Vol 44 (1) ◽  
pp. 51163 ◽  
Author(s):  
Anne-Gael Cordier ◽  
Francesca M. Russo ◽  
Jan Deprest ◽  
Alexandra Benachi
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia

scholarly journals De novo frameshift mutation inCOUP-TFII(NR2F2) in human congenital diaphragmatic hernia

2016 ◽  
Vol 170 (9) ◽  
pp. 2457-2461 ◽  
Author(s):  
Frances A. High ◽  
Pooja Bhayani ◽  
Jay M. Wilson ◽  
Carol J. Bult ◽  
Patricia K. Donahoe ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Frameshift Mutation ◽  
De Novo

scholarly journals CONGENITAL DIAPHRAGMATIC HERNIA - PRENATAL DIAGNOSIS AND SURVIVAL

1999 ◽  
Vol 45 (6) ◽  
pp. 919-919
Author(s):  
E Garne ◽  
P Quataert ◽  
C De Vigan ◽  
H Mendizabal ◽  
D Igoe ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia

scholarly journals Systematic analysis of copy number variation associated with congenital diaphragmatic hernia

2018 ◽  
Vol 115 (20) ◽  
pp. 5247-5252 ◽  
Author(s):  
Qihui Zhu ◽  
Frances A. High ◽  
Chengsheng Zhang ◽  
Eliza Cerveira ◽  
Meaghan K. Russell ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Candidate Genes ◽  
Birth Defects ◽  
Diaphragmatic Hernia ◽  
Copy Number ◽  
Large Scale ◽  
De Novo ◽  
Comparative Genomic ◽  
High Morbidity ◽  
Systematic Analysis

Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely elusive. Single-nucleotide polymorphisms have been studied in recent whole-exome sequencing efforts, but larger copy number variants (CNVs) have not yet been studied on a large scale in a case control study. To capture CNVs within CDH candidate regions, we developed and tested a targeted array comparative genomic hybridization platform to identify CNVs within 140 regions in 196 patients and 987 healthy controls, and identified six significant CNVs that were either unique to patients or enriched in patients compared with controls. These CDH-associated CNVs reveal high-priority candidate genes including HLX, LHX1, and HNF1B. We also discuss CNVs that are present in only one patient in the cohort but have additional evidence of pathogenicity, including extremely rare large and/or de novo CNVs. The candidate genes within these predicted disease-causing CNVs form functional networks with other known CDH genes and play putative roles in DNA binding/transcription regulation and embryonic development. These data substantiate the importance of CNVs in the etiology of CDH, identify CDH candidate genes and pathways, and highlight the importance of ongoing analysis of CNVs in the study of CDH and other structural birth defects.

scholarly journals Perinatal stabilisation of infants born with congenital diaphragmatic hernia: a review of current concepts

2020 ◽  
Vol 105 (4) ◽  
pp. 449-454
Author(s):  
Emily J J Horn-Oudshoorn ◽  
Ronny Knol ◽  
Arjan B Te Pas ◽  
Stuart B Hooper ◽  
Suzan C M Cochius-den Otter ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Management Strategies ◽  
Fetal Surgery ◽  
Adverse Outcomes ◽  
Delivery Room ◽  
Treatment Modalities ◽  
Mortality And Morbidity ◽  
Early Predictors ◽  
Stabilisation Period

Congenital diaphragmatic hernia (CDH) is associated with high mortality rates and significant pulmonary morbidity, mainly due to disrupted lung development related to herniation of abdominal organs into the chest. Pulmonary hypertension is a major contributor to both mortality and morbidity, however, treatment modalities are limited. Novel prenatal and postnatal interventions, such as fetal surgery and medical treatments, are currently under investigation. Until now, the perinatal stabilisation period immediately after birth has been relatively overlooked, although optimising support in these early stages may be vital in improving outcomes. Moreover, physiological parameters obtained from the perinatal stabilisation period could serve as early predictors of adverse outcomes, thereby facilitating both prevention and early treatment of these conditions. In this review, we focus on the perinatal stabilisation period by discussing the current delivery room guidelines in infants born with CDH, the physiological changes occurring during the fetal-to-neonatal transition in CDH, novel delivery room strategies and early predictors of adverse outcomes. The combination of improvements in the perinatal stabilisation period and early prediction of adverse outcomes may mitigate the need for specific postnatal management strategies.

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