The pentalogy of Cantrell: A rare and challenging prenatal diagnosis

• Published in: International journal of surgery case reports 2023-11, Vol.112, p.108941, Article 108941
• Main Authors: Mraihi, Fathi, Basly, Jihene, Mezni, Amani, Ghali, Zeineb, Hafsi, Montasar, Chelli, Dalenda
• Format: Article
• Language: English
• Subjects: Pentalogy of Cantrell; Pregnancy; Prenatal diagnosis; Ultrasonography
• ISSN: 2210-2612; 2210-2612
• DOI: 10.1016/j.ijscr.2023.108941

The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases. In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases. 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. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life. Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons. •The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy•Cantrell pentalogy is difficult to diagnose because it is rare and unknown to many sonographers. By raising awareness of the symptoms, clinicians can make an early diagnosis.•Results can be improved with early detection and multidisciplinary management•The prognosis is typically dismal with low survival and quality of life. Early diagnosis gives the practitioner the opportunity to discuss with the parents the various therapeutic alternatives, ranging from therapeutic termination of pregnancy to postnatal surgery pending advances in intrauterine surgery.