Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: The role of three‐dimensional sonography?

Gün, İsmet; Kurdoğlu, Mertihan; Müngen, Ercüment; Muhçu, Murat; Babacan, Ali; Atay, Vedat

doi:10.1002/jcu.20726

Cited by 22 publications

(16 citation statements)

References 13 publications

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“…The etiology is unknown but defective formation, differentiation and migration of the lateral mesoderm at 14-18 days of embryonic life is the most accepted hypothesis (3). Most previous reported cases were sporadic but X chromosome gene mutation was involved in midline ventral disorders and in the literature, X linked inheritance has been suggested in some families (3). Cantrell pentalogy may be present in different variations ranging from the protruding heart through the chest with omphalocele to anterior diaphragmatic hernia underdiagnosed until birth.…”

Section: Discussionmentioning

confidence: 93%

“…Recently, both 2-dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. Differential diagnosis consists of isolated thoracic ectopia cordis, amniotic band syndrome, body stalk anomaly, Beckwidth-Wiedemann syndrome and physiologic midgut herniation (2,3). Differential diagnosis is simple in physiologic midgut herniation related to the non-existent liver in the abdomen.…”

Section: Introductionmentioning

confidence: 99%

“…Primary anomalies are the ectopia cordis (EC) and omphalocele in this syndrome. Etiology is unknown but defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis (3). Recently, both 2-dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of Cantrell Pentalogy in first trimester screening: case report and review of literature

Ma¹,

Yeniel²,

Peker³

et al. 2011

J Turkish German Gynecol Assoc

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Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination.

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Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Prenatal diagnosis of Cantrell Pentalogy in first trimester screening: case report and review of literature

Ma¹,

Yeniel²,

Peker³

et al. 2011

J Turkish German Gynecol Assoc

View full text Add to dashboard Cite

show abstract

“…With the rapid development of ultrasound technology, real‐time ultrasonography (US) has received widespread attention because of its rapid, objective, and accurate advantages. This technique has enabled tremendous progresses in prenatal screening of malformations, such as congenital heart disease, central nervous system anomalies, skeletal deformities, and gastrointestinal tract malformation …”

Section: Introductionmentioning

confidence: 99%

“…This technique has enabled tremendous progresses in prenatal screening of malformations, such as congenital heart disease, central nervous system anomalies, skeletal deformities, and gastrointestinal tract malformation. 4,5 Here we report our experience with routine preoperative longitudinal esophageal high-frequency US for EA with distal fistula (EA-DF) during the last 3 years. Specifically, we evaluated the accuracy of highfrequency US in depicting the structure of EA-DF, thereby determining the likely role of US in planning the surgical strategy.…”

Section: Introductionmentioning

confidence: 99%

Application of high-frequency ultrasound in esophageal atresia with distal fistula

Yuan

Zhang

et al. 2013

Dis Esophagus

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The present study was designed to evaluate the accuracy of preoperative ultrasonography (US) in depicting the structure of esophageal atresia with distal fistula (EA-DF) and to determine its role in planning the surgical strategy by digitally measuring the interpouch distance (ID). Thirty-six neonates (20 males and 16 females) born with EA-DF were included in this study. After obtaining chest radiographs of the neonates with a coiled nasogastric tube in the upper esophageal pouch, longitudinal esophageal high-frequency US was performed. The esophageal structures were displayed, and the IDs measured on US images were compared with the surgical findings. With the use of US, the structure of EA-DF was accurately depicted, and the ID detected by US correlated well with the surgical findings. Statistical analysis demonstrated no significant difference in the ID as assessed by US and surgery (R = 0.99, P < 0.001).). US findings were crucial for planning the surgical strategy in 9 (25.0%) patients. Preoperative US could provide more accurate information on the structure of EA-DF and play a crucial role in planning the surgical strategy.

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Spectrum of Cantrell’s Pentalogy: Case Series From a Single Tertiary Care Center and Review of the Literature

2013

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The pentalogy of Cantrell (PC) was first described in 1958. It includes five anomalies: a deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, various congenital intracardiac abnormalities, and a defect of the lower sternum. Five patients showing the PC spectrum are reported. The report presents the prenatal diagnosis, the postnatal course, and the patients' outcome at a tertiary care center from June 2001 to May 2012. A literature review and the management plan for this group of patients also are discussed. All patient data were obtained via electronic medical records retrospectively after approval by the institutional review board at the home institution. The patients in the study were three males and two females. For all of the patients, a prenatal diagnosis had been determined. The mean gestational age at delivery was 36.6 weeks. One patient had associated cranial and spine malformations. All the patients had associated congenital heart disease but a normal karyotype. Four of the five patients died in the first year of life. The ages at death ranged from 0 to 259 days (mean, 46.2 ± 51.8 days). The patients who did not survive had withdrawal of care due to increased morbidity, associated complications, or parental wishes. The pentalogy of Cantrell is a wide spectrum of associations. Patients with the complete PC together with complex congenital heart disease or extracardiac malformations may have a poor prognosis. Incomplete PC cases may have a better outcome based on associated anomalies. Prenatal counseling plays a very important role in the decision-making process for the families and has a significant impact on the postnatal management. A multidisciplinary team approach is essential for successful postpartum outcomes.

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Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: The role of three‐dimensional sonography?

Cited by 22 publications

References 13 publications

Prenatal diagnosis of Cantrell Pentalogy in first trimester screening: case report and review of literature

Prenatal diagnosis of Cantrell Pentalogy in first trimester screening: case report and review of literature

Application of high-frequency ultrasound in esophageal atresia with distal fistula

Spectrum of Cantrell’s Pentalogy: Case Series From a Single Tertiary Care Center and Review of the Literature

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