Congenital diaphragmatic hernia, etiology and management, a 10-year analysis of a single center

Beck, C.; Alkasi, Özkan; Nikischin, Werner; Engler, Sylvia; Caliebe, Almuth; Leuschner, Ivo; Kaisenberg, Constantin S. von

doi:10.1007/s00404-007-0407-4

Cited by 17 publications

(14 citation statements)

References 35 publications

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“…Complete or mosaic chromosome aneuploidies, large chromosome deletions/duplications, and complex chromosome rearrangements identifiable by karyotype are present in 10–35% of CDH cases and occur at greatest frequency in non-isolated, prenatally diagnosed cases [2,6–11]. An additional 3.5–13% of cases without identifiable karyotype abnormalities have copy number variants (CNVs) including microdeletions or microduplications identifiable by chromosome microarray analysis, which offers higher resolution over a standard karyotype [12–20].…”

Section: Geneticsmentioning

confidence: 99%

Genetic causes of congenital diaphragmatic hernia

Wynn

Chung

2014

Seminars in Fetal and Neonatal Medicine

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Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics.

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Section: Geneticsmentioning

confidence: 99%

Genetic causes of congenital diaphragmatic hernia

Wynn

Chung

2014

Seminars in Fetal and Neonatal Medicine

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“…Congenital diaphragmatic hernia (CDH) can be diagnosed accurately by second‐trimester ultrasound examination1. Despite all efforts, morbidity and mortality in cases diagnosed prenatally remain high and are thought to be related to the severity of pulmonary hypoplasia and pulmonary arterial hypertension (PAH)2. Many studies have shown that a complicated neonatal course and/or mortality are related to decreased fetal lung size observed on ultrasound or magnetic resonance imaging, the presence of herniated liver and decreased pulmonary vascularity3–12.…”

Section: Introductionmentioning

confidence: 99%

A randomized controlled trial of fetal endoscopic tracheal occlusion versus postnatal management of severe isolated congenital diaphragmatic hernia

Ruano

Yoshisaki

Silva

et al. 2011

Ultrasound in Obstet & Gyne

230

216

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“…However, this is in contrast to other studies where TOP rates ranged from 21% to 44%. (1,5,7,22,24) As there is no general consensus on the counselling and management of CDH, there can be many reasons for this discrepancy, which are not within the scope of this paper.…”

Section: Discussionmentioning

confidence: 96%

Antenatally diagnosed congenital diaphragmatic hernia in Singapore: a five-year series

Lee¹,

Tan²

2013

smedj

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O r i g i n a l A r tic le 432 I NTRO D U C TIO NCongenital diaphragmatic hernia (CDH), a rare malformation with an incidence of 1.7-5.7 per 10,000 live births, remains one of the most fatal causes of severe respiratory failure.(1,2) CDH was first described by Riveriusin 1672, (3) with the types of defects classified by Morgagni in 1769.(4) The posterolateral defect that we now know as the most common type of CDH was described by Bochdalek in 1848. M E TH O DSAll CDH cases diagnosed antenatally in KKH between January 2006 and December 2010 were obtained using the discharge summary codes and retrospectively reviewed.Population denominators were obtained from KKH's perinatal statistics database. The incidences were calculated according to the format used by the National Birth Defects Registry.Detailed information was collected from the maternal medical records, which included demographic characteristics such as gestational age at diagnosis, method of diagnosis, ultrasonographic findings, prognostication factors (e.g. LHR,FLV and MPA diameter), presence of other anomalies, followup care (e.g. karyotyping, frequency of follow-up appointments and referral to paediatric surgical service), outcome of

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Congenital diaphragmatic hernia, etiology and management, a 10-year analysis of a single center

Abstract: The overall survival in CDH is around 50%, antenatal endoscopical therapy may only be considered, if the diagnosis is performed in the early second trimester, and selection criteria such as the lung to head ratio, associated defects and the chromosomal status can be applied.

Cited by 17 publications

References 35 publications

Genetic causes of congenital diaphragmatic hernia

Genetic causes of congenital diaphragmatic hernia

A randomized controlled trial of fetal endoscopic tracheal occlusion versus postnatal management of severe isolated congenital diaphragmatic hernia

Antenatally diagnosed congenital diaphragmatic hernia in Singapore: a five-year series

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