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Fetal Development and Maternal Diet
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Omphalocele forms when the lateral ecto-mesodermal folds fail to meet in the midline. This leaves the abdominal contents covered only by a two-layered sac of amnion and peritoneum into which the umbilical cord inserts. More than half of cases are associated with other major anomalies. Omphalocele also is a component of syndromes such as Beckwith–Wiedemann syndrome, cloacal exstrophy, and pentalogy of Cantrell.
Paediatric radiology
Published in Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven, Succeeding in Paediatric Surgery Examinations, 2017
Ashok Raghavan, Kshitij Mankad, Jeremy B Jones, Neetu Kumar
Pentalogy of Cantrell is a very rare complex that consists of omphalocele, congenital diaphragmatic hernia, sternal cleft, ectopia cordis and congenital heart disease. Ectopia cordis describes the malposition of the heart, usually through a central thoracic defect.
Fetal counseling for surgical malformations
Published in Prem Puri, Newborn Surgery, 2017
Exomphalos is characteristically a midline defect, at the insertion point of the umbilical cord, with a viable sac composed of amnion and peritoneum containing herniated abdominal contents (Figure 6.5). Incidence is known to be 1 in 4000 live births. Associated major abnormalities—which include trisomy 13, 18, and 21; Beckwith–Wiedemann syndrome (macroglossia, gigantism, exomphalos); pentology of Cantrell (sternal, pericardial, cardiac, abdominal wall, and diaphragmatic defect); and cardiac, gastrointestinal, and renal abnormalities—are noted in 60%–70% of cases. Thus karyotyping, in addition to detailed sonographic review and fetal echocardiogram, is essential for complete prenatal screening. Fetal intervention is unlikely in this condition. If termination is not considered, normal vaginal delivery at a center with neonatal surgical expertise is recommended and delivery by caesarean section only reserved for large exomphalos with exteriorized liver to prevent damage.
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum
Published in Fetal and Pediatric Pathology, 2019
Gürcan Türkyilmaz, Sahin Avcı, Tugba Sıvrıkoz, Emircan Erturk, Umut Altunoglu, Sebnem Erol Turkyilmazlmaz, Ibrahim Halil Kalelioglu, Recep Has, Atil Yuksel
In four fetuses (Cases 1, 2, 3 and 7) prenatal findings were associated with pentalogy of Cantrell due to the presence of a large abdominal wall defect. Cardiac defects are essential findings in pentalogy of Cantrell, and we were not able to demonstrate cardiac malformations in these fetuses prenatally. As three cases (Cases 1–3) were scanned in the first trimester, we could not evaluate the fetal heart adequately. Also, fetopsy did not reveal a cardiac anomaly in these fetuses. In the triplet pregnancy, difficulty in the scans precluded a detailed heart evaluation, and a major malformation was later detected after birth in this triplet infant. Fetopsy did not show a cardiac anomaly in cases which EC was a component of body stalk anomaly in two pregnancies (Cases 5 and 6). An abdominal wall defect with kyphoscoliosis, bilateral clubfoot, and a short umbilical cord were seen in Case 5, and a large abdominal wall defect containing the liver and bowel, posterior cephalocele, and a short umbilical cord were detected in Case 6. Kyphoscoliosis was not diagnosed prenatally in this case and was identified in the postnatal examination. We did not see a cephalocele in Case 6, which was demonstrated in the prenatal US. We classified the EC as thoracoabdominal type in one case (Case 4) and thoracic type in the remaining patients in fetal life, and they were confirmed in postnatal examinations.
Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis
Published in Fetal and Pediatric Pathology, 2020
Ricardo Diaz-Serani, Waldo Sepulveda
Last but not least, there is some controversy regarding the similarities and differences between thoraco-abdominal ectopia cordis and pentalogy of Cantrell [19, 20], terms that are frequently used indistinctly by many authors. In the former, the heart and liver are extruded anteriorly together through a thoraco-abdominal defect combining the lack of fusion of the sternum and a defect of the supraumbilical portion of the anterior abdominal wall [2, 20]. Usually, this defect is so large that it is not covered by skin. In pentalogy of Cantrell [19], however, there is a specific pattern of five malformations including a midline, supraumbilical abdominal wall defect; a defect of the lower sternum; a deficiency of the anterior diaphragm; a defect in the diaphragmatic pericardium; and congenital intracardiac defects. In their original work, Cantrell et al. [19] described five individuals with this constellation of findings evaluated between the neonatal period and 16 years of age. Two had a liver-containing omphalocele, three had diastasis with a hernia (i.e., they were covered by skin), and none had ectopia cordis. The authors commented that this combination of anomalies was previously considered an example of ectopia cordis due to the abnormally exposed position of the heart. However, they noted that in four of their five cases the heart lay in a normal relationship to the other thoracic viscera and in two cases there was a ventricular diverticulum extruding into the defect. They therefore concluded that “it is inadequate and inaccurate to consider such patients as examples of ectopia cordis” [19]. Although at least two criteria of the pentalogy of Cantrell must be present in thoraco-abdominal ectopia cordis (i.e., the defects in the supraumbilical abdominal wall and lower sternum), a distinct feature of pentalogy of Cantrell is the normal location of the heart. The clear location of the heart outside the thoracic cavity should therefore be considered as definitive proof of thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell. In our case the parents did not agree with a full postmortem examination to determine the extent of the thoraco-abdominal wall defect, but previous reports on autopsy findings in fetuses with ectopia cordis associated with a large supraumbilical omphalocele were almost invariably associated with sterno-costal, diaphragmatic, and pericardial defects [20]. In addition, trisomy 18 is frequently associated with congenital heart defects, which also could have been the case in the fetus described in this report, theoretically complying with the all five criteria of pentalogy of Cantrell [19]. However, the clear documentation of ectopia cordis allowed classification of the constellation of findings present in our case as a thoraco-abdominal ectopia cordis rather than a pentalogy of Cantrell. Finally, although ectopia cordis is generally considered an isolated, sporadic malformation, its occasional association with chromosomal abnormalities suggests that prenatal karyotyping should be considered in the management of these cases, especially for thoraco-abdominal ectopia cordis.