scholarly journals Congenital Diaphragmatic Hernia: A Major Challenge for Neonatologists

2020 ◽  
Author(s):  
Rameshwar Prasad
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Therapeutic Interventions ◽  
High Morbidity ◽  
Fetal Life ◽  
Extra Corporeal Membrane Oxygenation ◽  
Weak Evidence ◽  
Improved Outcomes ◽  
Major Congenital Anomaly ◽  
Substantial Progress

Congenital diaphragmatic hernia (CDH) is a major congenital anomaly of the neonates, characterized by the herniation of abdominal contents into the thoracic cavity during fetal life. This results in significant pulmonary hypertension and hypoxemia after birth, which responds poorly to therapeutic interventions. CDH is associated with high morbidity and mortality. The exact pathogenesis is not well understood, and genetic factors have been proposed. The management starts in utero, with antenatal diagnosis and identification of prenatal predictors for the outcomes, which help in the selection of cases suitable for fetal therapy. The postnatal management is complicated by the need for variable cardio-respiratory support and even extra corporeal membrane oxygenation (ECMO), before corrective surgery is undertaken. Improvement in the understanding of the pathophysiology of the underdeveloped lungs and pulmonary vessels has contributed to substantial progress in the management of CDH, which has translated into improved outcomes and survival. Still, many questions regarding CDH remain unanswered and the management is largely based on weak evidence.

Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated With Congenital Diaphragmatic Hernia: an Algorithmic Approach

2018 ◽  
Vol 30 (2) ◽  
pp. 191-196 ◽  
Author(s):  
Kaitlin Balduf ◽  
T.K. Susheel Kumar ◽  
Umar Boston ◽  
Shyam Sathanandam ◽  
Marc V. Lee ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Hypoplastic Left Heart Syndrome ◽  
Diaphragmatic Hernia ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Algorithmic Approach ◽  
Improved Outcomes ◽  
Left Heart Syndrome

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.

Prognosis in Congenital Diaphragmatic Hernia Diagnosed During Fetal Life

2017 ◽  
Vol 4 (2) ◽  
pp. 57-63
Author(s):  
Tara A. Morgan ◽  
Dorothy J. Shum ◽  
Amaya M. Basta ◽  
Roy A. Filly
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Fetal Life

Diagnostic challenges in late-presenting congenital diaphragmatic hernia: a 16-year experience from tertiary care centre in North India

2019 ◽  
Vol 49 (2) ◽  
pp. 138-141 ◽  
Author(s):  
Kamal Nain Rattan ◽  
Jasbir Singh ◽  
Poonam Dalal
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Tertiary Care ◽  
Therapeutic Interventions ◽  
North India ◽  
Ultrasound Screening ◽  
Care Centre ◽  
Tertiary Care Centre ◽  
Female Ratio ◽  
Plain Chest Radiograph

With increasing use of ultrasound screening, the prenatal diagnosis of congenital diaphragmatic hernia (CDH) in better resourced areas has become the norm. However, early diagnosis is still not universal in resource-poor settings and late presentations of CDH continue. We retrospectively analysed the medical records of children operated for late-presenting CDH from 2001 to 2016 at our tertiary care centre in North India. A total of 32 patients were operated during the period with a male-to-female ratio of 3:1. Of these, 78% presented with respiratory symptoms, 37% with recurrent vomiting and 18% with an acute abdomen. Nine (28%) had been treated erroneously for gastroenteritis and another six (18%) had received anti-tubercular therapy for variable periods. A plain chest radiograph with a Ryle’s tube in situ was confirmatory in 75% (24/32). In conclusion, initial misdiagnosis and subsequent unnecessary therapeutic interventions were the leading cause of morbidity .

CARDIAC MALPOSITION IN NEONATES WITH CONGENITAL DIAPHRAGMATIC HERNIA (CDH) TREATED WITH EXTRA-CORPOREAL MEMBRANE OXYGENATION (ECMO): † 1408

1996 ◽  
Vol 39 ◽  
pp. 237-237 ◽  
Author(s):  
James J Paul ◽  
Karen E Paul ◽  
Aviva L Katz ◽  
Luciana T Pagotto ◽  
Clair Spettell ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Extra Corporeal Membrane Oxygenation ◽  
Membrane Oxygenation

scholarly journals Duodenal Stenosis with Diaphragmatic Hernia—A Rare Combination—Delayed Diagnoses with Barium Study

2019 ◽  
Vol 02 (01) ◽  
pp. 069-073
Author(s):  
Rupa Ananthasivan ◽  
Sudarshan Rawat ◽  
Pramesh Reddy ◽  
Pooja G. Patil ◽  
Chittur Narendra Radhakrishnan
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Neonatal Period ◽  
Delayed Diagnosis ◽  
Fetal Life ◽  
Duodenal Stenosis ◽  
Food Residue ◽  
Surprising Finding ◽  
Made In

AbstractDuodenal stenosis is part of a spectrum of disorders due to non-cannulization of the fetal gut lumen occurring in 11 to 13 weeks of fetal life. The diagnosis is often made in the neonatal period owing to bilious vomiting. The authors present a case of a 9-year-old boy who was diagnosed by an upper gastrointestinal study that showed a hugely dilated stomach filled with food residue and a dilated first part of the duodenum with an abrupt narrowing in the second part of the duodenum in keeping with duodenal stenosis. There was no associated malrotation (a known association), but the delayed images showed a surprising finding of herniation of large bowel loops into the thorax suggestive of a congenital diaphragmatic hernia (Bochdalek type). Both these findings were confirmed on surgery, and the patient underwent duodenoduodenostomy and diaphragmatic hernia repair and is doing well on follow-up. This case is unusual due to the rare association of duodenal stenosis with congenital diaphragmatic hernia and delayed diagnosis. Both these pathologies most often present in the neonatal period, and delayed diagnosis is most often seen with associated trisomy 21 that was not the case in our patient.

Effect of prenatal glucocorticoids and postnatal nitric oxide inhalation on survival of newborn rats with nitroten-induced congenital diaphragmatic hernia

2001 ◽  
Vol 120 (5) ◽  
pp. A210-A210
Author(s):  
O MANN ◽  
C HUPPERTZ ◽  
C BLOECHLE ◽  
J IZBICKI ◽  
W LAMBRECHT ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Newborn Rats ◽  
Nitric Oxide Inhalation

Right-Sided Congenital Diaphragmatic Hernia and Agenesis of the Lung - Diagnostic Pitfalls

2002 ◽  
Vol 41 (5) ◽  
pp. 441-447
Author(s):  
Tröbs R.-B. ◽  
Wild L. ◽  
Klöppel R. ◽  
Bennek J.
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Diagnostic Pitfalls

The initial ventilation mode as a risk factor for chronic lung disease in infants with congenital diaphragmatic hernia

2009 ◽  
Vol 213 (S 01) ◽  
Author(s):  
L van den Hout ◽  
J Felix ◽  
D Tibboel ◽  
W Hop ◽  
T Schaible ◽  
...  
Keyword(s):  
Risk Factor ◽  
Congenital Diaphragmatic Hernia ◽  
Lung Disease ◽  
Diaphragmatic Hernia ◽  
Chronic Lung Disease ◽  
Ventilation Mode
Sign in / Sign up

Export Citation Format

Share Document