Ectopia Cordis in a First-Trimester Sonographic Screening Program for Aneuploidy

Sepúlveda, Waldo; Wong, Amy E.; Simonetti, Luis; Gómez, Enrique Galán; Dezerega, Víctor; Gutiérrez, Juan Martín

doi:10.7863/jum.2013.32.5.865

Cited by 20 publications

(24 citation statements)

References 21 publications

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“…Prenatal diagnosis can be done using qualified and experienced obstetric ultra sonographers as early as 10 weeks of gestation using the traditional two dimensional (2D) imaging sonography; at which stage an omphalocele and ectopia cordis are common findings [ 48 – 54 ]. While a 3D imaging sonography may be required for the diagnosis of certain fetal anomalies, the diagnosis of pentalogy of Cantrell can sufficiently be made with a traditional 2D imaging sonography [ 49 , 51 , 52 , 54 ].…”

Section: Discussionmentioning

confidence: 99%

Class II pentalogy of Cantrell

et al. 2015

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BackgroundPentalogy of Cantrell is a rare syndrome, first described by Cantrell and co-workers in 1958. The syndrome is characterized by the presence of five major congenital defects involving the diaphragm, abdominal wall, the diaphragmatic pericardium, lower sternum and various congenital intra-cardiac abnormalities. The syndrome has never been reported in Tanzania, although may have been reported from other African countries. Survival rate of the complete form of pentalogy of Cantrell is as low as 20%, but recent studies have reported normal growth achieved by 6 years of age where corrective surgeries were done; showing that surgical repair early in life is essential for survival.Case presentationThe African baby residing in Tanzania was referred from a district hospital on the second day of life. She was noted to have a huge omphalocele and ectopia cordis covered by a thin membrane, with bowels visible through the membrane and the cardiac impulse visible just below the epigastrium. Despite the physical anomaly, she appeared to saturate well in room air and had stable vitals. Her chest X-ray revealed the absence of the lower segments of the sternum and echocardiography showed multiple intra-cardiac defects. Based on these findings, the diagnosis of pentalogy of Cantrell was reached. On her fifth day of life, the neonate was noted to have signs of cardiac failure characterized by easy fatigability and restlessness during feeding. Cardiac failure treatment was initiated and she was discharged on parents’ request on the second week of life. Due to inadequate facilities to undertake this complex corrective surgery, arrangements were being made to refer her abroad. In the meantime, her growth and development was satisfactory until the age of 9 months, when she ran out of the medications and succumbed to death. Her parents could no longer afford transport cost to attend the monthly clinic visits, where the infant was getting free medication refill.ConclusionsThe case reported here highlights that in resource limited settings; poor outcome in infants with complex congenital anomalies is a function of multiple factors. However, we believe that surgery would have averted mortality in this 9-month-old female infant. We hope to be able to manage these cases better in future following the recent establishment of cardiac surgery facilities at Muhimbili National Hospital.

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Section: Discussionmentioning

confidence: 99%

Class II pentalogy of Cantrell

et al. 2015

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“…The prenatal sonographic diagnosis of ectopia cordis is relatively easy with two‐dimensional real‐time ultrasound and relies on the demonstration of a pulsating heart outside the fetal chest . Although the prenatal diagnosis in the first trimester has been documented by several authors, the diagnosis before 9 weeks of gestation has not been reported, probably because of the small size of the embryo and the high mortality rate in a significant number of early embryos affected with this condition.…”

Section: Early Sonographic Diagnosis Of Ectopia Cordis: Clinical Casesmentioning

confidence: 74%

Sonographic diagnosis of ectopia cordis before 9 weeks of gestation

Sepúlveda

Андреева

Machado³

2014

Prenatal Diagnosis

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What's already known about this topic?Ectopia cordis is a rare, almost invariably lethal, condition that can be readily diagnosed by prenatal sonography.The prenatal diagnosis of ectopia cordis before 9 weeks has not been reported. What does this study add?This series of three cases documents, the earliest diagnosis of ectopia cordis reported to date.Ectopia cordis seems to be associated with a high lethality rate in early embryos, suggesting that this condition could be more frequent than previously reported.

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“…Apart from the midline anterior ventral wall defect, a defect of anterior diaphragm, a cleft distal sternum, a defect of apical pericardium with communication into the peritoneum, and an intracardiac defect, POC is known to be associated with numerous other anomalies like cleft lip, cleft palate, encephalocele, hydrocephalus, craniorachischisis, thoracoabdominal organ abnormalities include pulmonary hypoplasia, adrenal hypoplasia, gallbladder agenesis, single renal agenesis, polysplenia, malrotation of the colon, herniation of bowel into pericardium, bladder exstrophy, undescended testes and bilateral inguinal hernia, and limb defects include club foot, absence of tibia, radius and hypodactyly [ 3 , 11 ]. The intracardiac anomalies in POC comprise of ventricular septal defects, Ebstein’s anomaly, truncus arteriosus, transposition of great vessels, single atrium, atrioventricular canal, an atrial septal defect, a left ventricular diverticulum, tetralogy of Fallot, a double-outlet right ventricle, and hypoplastic left heart syndrome [ 3 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…In the thoraco-abdominal variety of ectopia cordis (7% of cases of ectopia cordis), the heart is displaced outside the chest through a defect in the lower sternum in association with diaphragmatic and ventral abdominal wall defects. In the abdominal variety of ectopia cordis (30% of cases of ectopia cordis), the heart is displaced inferiorly into the abdomen through a defect in the diaphragm [ 12 ]. In POC, the sternal defect can be visualized as a partial or complete breach in the continuity of the fetal sternum towards its distal or the lower aspect that can be adequately assessed in the sagittal plane on ultrasound.…”

Section: Discussionmentioning

confidence: 99%

A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature

Satya¹,

Mayilvaganan²,

Prathyusha

et al. 2018

Pol J Radiol

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SummaryBackgroundPentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool and is indispensible in the diagnosis of POC. Despite the rarity of POC, it is imperative for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Most reported cases in literature till now have been sporadic. In this paper, we aimed to report for the first time in literature, a recurrent case of POC detected in the first trimester in a mother whose previous pregnancy also was terminated in the second trimester medically due to the ultrasound diagnosis of POC. We also discuss the role of ultrasound and other imaging modalities in a case of POC as well as the differential diagnoses which can mimic POC.Case ReportA 23-year-old G2P0A1 (Gravida2, para0, abortion1) woman with a gestational age of around 12 weeks was referred for a routine first trimester ultrasound scan. The antenatal ultrasound scan showed a single, live, intrauterine gestation corresponding to a gestational age of 11 weeks and 5 days. The fetal heart was visualized outside the chest through a defect in the lower sternum in association with anterior diaphragmatic and ventral abdominal wall defects suggestive of thoraco-abdominal variety of ectopia cardis. There was a membrane covered, midline, abdominal wall defect at the base of the umbilical cord insertion containing the herniated abdominal organs including the liver, bowel loops and the ectopic cardia. There was a breach in the normal outline of the lower sternum indicating a sternal deficiency. The fetal pericardium was absent. The nuchal translucency was grossly increased. Pentalogy of Cantrell was diagnosed on ultrasound and the patient was explained about the poor prognosis of this condition. An informed consent was obtained after she opted for medical termination of pregnancy. The autopsy confirmed all the above mentioned ultrasound features.ConclusionsPentalogy of Cantrell (POC) is an extremely rare and complex syndrome of numerous fetal anomalies but should always be borne in the mind during the ultrasound evaluation of either of an omphalocele, ectopia cordis, distal sternal defect, pericardial defect, anterior diaphragmatic defect or intracardiac anomalies. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool for diagnosis of POC. Ultrasound should always be the primary mode of diagnosis in POC because although Magnetic resonance imaging (MRI) can help in better delineation of fetal anomalies, it does not significantly alter the course of the pregnancy or the management of POC.

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Ectopia Cordis in a First-Trimester Sonographic Screening Program for Aneuploidy

Cited by 20 publications

References 21 publications

Class II pentalogy of Cantrell

Class II pentalogy of Cantrell

Sonographic diagnosis of ectopia cordis before 9 weeks of gestation

A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature

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