Congenital Diaphragmatic Hernia as a Cause of Perinatal Mortality

Butler, N. R.; Claireaux, A. E.

doi:10.1016/s0140-6736(62)92878-7

Cited by 218 publications

(80 citation statements)

References 4 publications

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“…Survivors were operated on at a median age of 2.0 (range, [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] days; 77% of them required a patch augmented repair. Full enteral feeding was possible at 26 (range, 5-150) days of age.…”

Section: Postnatal Morbidity Indices and Their Predictors In The Fetomentioning

confidence: 99%

Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion

Doné

Gratacós

Nicolaides

et al. 2013

Ultrasound in Obstet & Gyne

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Section: Postnatal Morbidity Indices and Their Predictors In The Fetomentioning

confidence: 99%

Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion

Doné

Gratacós

Nicolaides

et al. 2013

Ultrasound in Obstet & Gyne

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“…Multiplex families with CDH-Numerous multiplex families with either isolated or complex CDH have been published [Butler and Claireaux, 1962;Welch and Cooke, 1962;Scott and Patterson, 1966;Passarge et al, 1968;ten Kate and Anders, 1970;Feingold, 1971;Harberg et al, 1976;Thomas et al, 1976;Crane, 1979;David et al, 1979;Pollack and Hall, 1979;Arad et al, 1980;Wolff, 1980;Gencik et al, 1982;Norio et al, 1984;Czeizel and Kovacs, 1985;Lipson and Williams, 1985;Toriello et al, 1985Toriello et al, , 1986Bocian et al, 1986;Farag et al, 1989;Hitch et al, 1989;Carmi et al, 1990;Frey et al, 1991;Sripathi and Beasley, 1992;Narayan et al, 1993;Farag et al, 1994;Gibbs et al, 1997;Mitchell et al, 1997;Kufeji and Crabbe, 1999;Manouvrier-Hanu et al, 2000]. Several of these families are consanguinous, making it likely that a single mutant gene is responsible for their disorder [Arad et al, 1980;Norio et al, 1984;Farag et al, 1989Farag et al, , 1994, though multifactorial inheritance cannot be ruled out as an explanation for familial clustering.…”

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Pober

Lin

Russell

et al. 2005

American J of Med Genetics Pt A

100

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Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women's Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. When classified according to likely etiology, 17% had a Recognized Genetic etiology for their CDH, while the remaining 83% had No Apparent Genetic etiology. Detailed analysis using this largest cohort of consecutively collected cases of CDH showed low precurrence among siblings. Additionally, there was no concordance for CDH among five monozygotic twin pairs. These findings, in conjunction with previous reports of de novo dominant mutations in patients with CDH, suggest that new mutations may be an important mechanism responsible for CDH. The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH.

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“…Pulmonary hy poplasia and persistent pulmonary hyperten sion are the landmarks of the disease, but morphological immaturity of lung tissue has also been demonstrated in babies dying of CDH [1][2][3], in the fetal lamb model of surgi cally induced CDH [4,5], and in the nitrofen-K A R G E R © 1996 S. Karger AG. Basel 0006-3126/96/0692-0094$ 10.00/0 E-Mail kargcr(a'kargcr.ch F ax+41 61 306 12 34 induced rat model [6].…”

Section: Introductionmentioning

confidence: 99%

Lung Hypoplasia and Surfactant System Immaturity Induced in the Fetal Rat by Prenatal Exposure to Nitrofen

et al. 1996

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We studied the biochemical maturity of the lungs of fetuses born to rats exposed to nitrofen on day 9.5 of gestation. In comparison with controls, nitrofen-treated fetuses had pulmonary hypoplasia (decreased lung/body weight), lung hypocellularity (low DNA content) and cellular atrophy (low protein/ DNA and phospholipid/DNA) on gestational days 19 and 21. Treated animals with congenital diaphragmatic hernia (CDH) also had cell atrophy and surfactant immaturity (decreased disaturated phosphatidylcholine/DNA) near term. Our data demonstrate that nitrofen causes lung hypoplasia and some degree of surfactant system immaturity that is particularly prominent in fetuses with CDH.

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Congenital Diaphragmatic Hernia as a Cause of Perinatal Mortality

Cited by 218 publications

References 4 publications

Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion

Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital‐based malformation surveillance program

Lung Hypoplasia and Surfactant System Immaturity Induced in the Fetal Rat by Prenatal Exposure to Nitrofen

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