Congenital diaphragmatic hernia: a meta-analysis of mortality factors.

Department of Surgery, The National Hospital, Oslo, Norway.
Journal of Pediatric Surgery (Impact Factor: 1.39). 08/2000; 35(8):1187-97. DOI: 10.1053/jpsu.2000.8725
Source: PubMed


The aim of this study was to review all available studies reported in the English-language literature from 1975 through 1998, and by meta-analysis assess the importance of prenatal diagnosis, associated malformations, side of hernia, timing of surgery, and study population on mortality rates in patients with congenital diaphragmatic hernia (CDH).
One-hundred-two studies were identified, and 51 studies (2,980 patients) fulfilled the prespecified inclusion criteria. Studies were grouped according to study population into: (I) fetuses diagnosed prenatally; (II) neonates admitted to a treatment center; and (III) population-based studies.
Pooled total mortality rate was significantly higher in category I than in category III (75.6% v 58.2%, P < .001). Pooled hidden postnatal mortality rate (deaths before admittance to a treatment center) in population-based studies was 34.9%. Prenatally diagnosed patients in both category II and III had significantly higher mortality rates than those diagnosed postnatally. Mortality rates were significantly higher among CDH infants with associated major malformations compared with isolated CDH in all 3 categories. An increased mortality rate in right-sided CDH was found in category II and III.
Prenatal diagnosis of CDH, presence of associated major malformations, and the study population have a major influence on mortality rate. The very high mortality rate in studies of fetuses with a prenatal diagnosis of CDH should be taken into account in prenatal counselling.

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Available from: Hans Skari, Jun 02, 2015
    • "Congenital diaphragmatic hernia (CDH) is a common congenital defect, affecting up to 1 in 4,000 live births [Skari et al., 2000], and is associated with considerable mortality and morbidity. CDH can occur in isolation or in association with a recognized syndrome, a chromosomal abnormality, or a non-syndromic constellation of other malformations, notably congenital heart disease [Pober, 2007]. "
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    ABSTRACT: Chromosomal abnormalities are an important factor in the pathogenesis of congenital diaphragmatic hernia (CDH), a relatively common congenital defect associated with high morbidity and mortality. The adoption of array-based platforms for chromosome analysis has resulted in the identification of numerous copy number variants (CNVs) in infants with CDH, highlighting the potential pathogenic role of many novel genes. We identified a retrospective cohort of 28 infants treated for CDH at a single institution who had microarray testing to determine the proportion of microarray abnormalities and whether these were contributory to CDH pathogenesis. Eight patients (29%) had microarray abnormality. Seven (25%) were considered likely contributory to CDH pathogenesis, including two mosaic trisomy 9s, a 9q22.31q22.32 microduplication, two atypical 22q11.21 microdeletions, a 2q35q36.1 microdeletion, and a 15q11.2 microdeletion, offering insights into the genetic mechanisms underlying CDH development. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 06/2015; 167(10). DOI:10.1002/ajmg.a.37177 · 2.16 Impact Factor
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    • "The management of CDH is undergoing continual changes and refinement, fueled by recent advances, even though the etiology and pathogenesis of CDH are controversial. In many cases, the left side is herniated; right-sided CDH accounts for 8–21% of all cases of CDH (Skari et al. 2000, Hedrick et al. 2004). It is not uncommon for CDH to be associated with additional anomalies, and clinical management and assessment for such fetuses is still a challenge. "
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    ABSTRACT: A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after the full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia.
    Congenital Anomalies 07/2014; 54(4). DOI:10.1111/cga.12075 · 1.08 Impact Factor
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    • "Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1/3,000 live births [Torfs et al., 1992; Skari et al., 2000]. The development of the human diaphragm occurs between the 4th and 12th week of gestation and derives from four components: the septum transversum, the pleuroperitoneal folds, the dorsal mesentery of the esophagus, and the thoracic body wall [Allan and Greer, 1997; Babiuk et al., 2003; Clugston et al., 2006]. "
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    ABSTRACT: Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3,000 births. The pathogenesis of this developmental anomaly remains largely unknown and the description of small chromosomal imbalances in cases of CDH is of major interest for the identification of candidate genes. We report on a tandem 4q31.23 triplication encompassing the EDNRA gene identified by array-CGH in a male presenting an isolated left postero-lateral CDH. This copy number variation was inherited from the asymptomatic father, carrier of a size-identical duplication. We demonstrate that EDNRA mRNA is over-expressed in the proband in blood tissue. Consistent with the expression of EDNRA in the developing diaphragm and the observation that the endothelin system is up-regulated in human and animal models of CDH, we conclude that the EDNRA triplication may be the cause of CDH in our patient. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 01/2014; 164(1):208-12. DOI:10.1002/ajmg.a.36216 · 2.16 Impact Factor
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