Outcomes of congenital diaphragmatic hernia: a 12‐year experience

Samangaya, Rebekah A.; Choudhri, Safiyya; Murphy, Fiona; Zaidi, Taqi; Gillham, Joanna; Morabito, Antonino

doi:10.1002/pd.3841

Cited by 28 publications

(31 citation statements)

References 24 publications

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“…For pregnancies with an antenatal diagnosis of CDH, 62.8% resulted in a live birth, with 73% of these surviving to surgery and a 91% postsurgery survival in the absence of prenatal fetal therapy such as fetoscopic tracheal occlusion (FETO). This is akin to the results from population‐based studies on CDH in the United Kingdom and France . In Western Australia, terminations of pregnancy are permitted on request or when the life, physical, or mental health of the woman is endangered, up to 20 weeks gestation.…”

Section: Discussionmentioning

confidence: 99%

Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes

et al. 2018

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Objective This study aims to review temporal changes in perinatal management and 1‐year survival outcomes of cases of congenital diaphragmatic hernia (CDH) from 1996 to 2015 in Western Australia (WA). Method This research is a retrospective study of all cases of CDH in WA from 1996 to 2015 identified from five independent databases within the WA health network. Detailed information pertaining to pregnancy and survival outcomes were obtained from review of maternal and infant medical records. Results There were 215 cases of CDH with 164 diagnosed prenatally. Between 1996 and 2010, a decline in live birth rates for CDH‐affected pregnancies was observed, reaching a nadir of 5.3 per 10 000 births before increasing to a peak of 9.73 per 10 000 births in 2011‐2015. A corresponding decline was seen in the number of pregnancies terminated in the same period from 8.3 to 4.6 per 10 000 births (P = 0.14) and an increase in survival of live births from 38.9% to 81.3% (P = 0.01). Conclusion The improved overall survival rate in infants with CDH over the last 20 years may have resulted in an increased tendency for women to continue their pregnancy with a concomitant decline in termination rates. Information from this study will help in the counselling of women following prenatal detection of CDH.

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Section: Discussionmentioning

confidence: 99%

Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes

et al. 2018

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“…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]. Aneuploidies and CNVs are associated with increased neonatal mortality [12,18].…”

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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“…This chance is similar to that described by Taheri and Kadir 4 for a fetus to be affected by both conditions. Samangaya et al 6 reported that the risk of having a chromosomal abnormality in a case of congenital diaphragmatic hernia after being diagnosed through ultrasound is up to 15.9%, which enhances the importance of fetal karyotyping in this situation. 7 The chromosomal abnormalities observed among patients with congenital diaphragmatic hernia include tetrasomy 12p mosaicism and trisomy 18.…”

Section: Discussionmentioning

confidence: 99%

“…7 The prognosis for diaphragmatic hernia is still very poor. 6 Fetuses with Klinefelter syndrome usually do not present associated major malformations and, differently from other chromosomal anomalies, such as Turner syndrome or trisomy 13 and 18, do not show increased rates of intrauterine mortality. 2,9 Although the risk of dying due to a variety of diseases, such as malignant neoplasms, diabetes type 2 and respiratory and circulatory system diseases may be greater among Klinefelter patients, 10 we believe that the chromosomal anomaly present in our patient did not interfere with the prognosis associated with his diaphragmatic hernia.…”

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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Outcomes of congenital diaphragmatic hernia: a 12‐year experience

Abstract: Abnormal karyotype was more common when CDH was associated with other anomalies. In multivariate analysis, lower birthweight and prenatal diagnosis had a significant impact on survival. Only prenatally diagnosed CDH survival figures should be utilised in prenatal counselling.

Cited by 28 publications

References 24 publications

Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes

Congenital diaphragmatic hernia: Impact of contemporary management strategies on perinatal outcomes

Genetic causes of congenital diaphragmatic hernia

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report

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