Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions

Garne, Ester; Haeusler, Martin; Barišić, Ingeborg; Gjergja, Romana; Stoll, Claude; Clementi, Maurizio

doi:10.1046/j.1469-0705.2002.00635.x

Cited by 201 publications

(165 citation statements)

References 18 publications

(30 reference statements)

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“…However, if we presume that Bochdalek hernias predominated among the non-classifiable CDH cases intending to deliver at BWH (Fig. 1), than the prevalence rises to 2.1/10,000, comparable to a few other series [Langham et al, 1996;Robert et al, 1997;Garne et al, 2002;Dott et al, 2003]. Additionally, we found a < 1% sibling precurrence risk, and CDH discordance among five confirmed monozygotic twin pairs.…”

Section: Discussionsupporting

confidence: 70%

“…Chromosome abnormalities and CDH-Using standard techniques chromosome abnormalities have been detected, on average, in ∼10% of cases with CDH [ Thorpe-Beeston et al, 1989;Philip et al, 1991;Bollmann et al, 1995;Howe et al, 1996;Faivre et al, 1998;Garne et al, 2002;Tonks et al, 2004]. Examples of commonly detected abnormalities include trisomy 18, trisomy 21, trisomy 13, tetrasomy 12p, +der 22 t(11;22), 8p-, and 4p- [Pecile et al, 1990;Howe et al, 1996;Faivre et al, 1998;Lurie, 2003;Borys and Taxy, 2004;Tonks et al, 2004;van Dooren et al, 2004].…”

Section: Further Evidence That Cdh Has Genetic Determinantsmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 70%

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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“…7 The chromosomal abnormalities observed among patients with congenital diaphragmatic hernia include tetrasomy 12p mosaicism and trisomy 18. 1,8 Interestingly, cystic adenomatoid malformation was our first hypothesis for the intrathoracic cystic lesion observed in the fetus, and this has been poorly associated with chromosomal abnormalities, especially as an isolated defect. 7 The prognosis for diaphragmatic hernia is still very poor.…”

Section: Discussionmentioning

confidence: 99%

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

Valdez¹,

Altmayer

Faria³

et al. 2014

Sao Paulo Med. J.

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CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fetal left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fetal echocardiography showed only a dextroposed heart. Fetal magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fetal karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births. RESUMOCONTEXTO: Lesões císticas intratorácicas são diagnosticadas em ampla variedade de faixas etárias, e o uso aumentado dos estudos de imagem pré-natal tem permitido a detecção desses defeitos ainda intraútero. RELATO DO CASO: Uma gestante de 17 anos que estava em sua segunda gravidez, com 23 semanas de gestação, apresentava ultrassom com evidência de imagem cística anecoica no hemitórax esquerdo fetal. O ultrassom morfológico realizado no hospital verificou que esta media 3,7 cm x 2,1 cm x 1,6 cm. Evidenciou-se também a presença de polidrâmnio. Neste momento, levantou-se a hipótese de malformação adenomatoide cística. A ecocardiografia fetal mostrou apenas coração desviado para a direita. A ressonân-cia magnética fetal revelou imagem compatível com hérnia diafragmática à esquerda, contendo estôma-go e, pelo menos, primeira e segunda partes do duodeno, lobo esquerdo do fígado, baço, segmentos de intestino delgado e porções do cólon. O estômago mostrava-se muito distendido e o coração, deslocado para a direita. Havia redução importante do volume do pulmão esquerdo. O cariótipo fetal mostrou constituição cromossômica 47,XXY, compatível com a síndrome de Klinefelter. Em nossa revisão da literatura, encontramos apenas um caso de associação entre síndrome de Klinefelter e hérnia diafragmática. CONCLUSÃO: Acreditamos que a associação observada neste caso foi puramente uma coincidência, uma vez que ambas as condições são relativamente comuns. A chance de os dois eventos ocorrerem simultaneamente é estimada em 1 ...

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“…Prenatal ultrasound diagnosis [PUD] helps in making informed decision in planning for the delivery of the baby at the appropriate facility with the necessary skills and personnel. PUD has high yield, aids surveillance for in-utero complications and also useful in prognostication 4,5 . Our patient failed to enjoy these benefi ts due to inadequate antenatal care (ANC).…”

Section: Discussionmentioning

confidence: 99%