2025, Volume 19, Issue 2
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Przeglądanie 2025, Volume 19, Issue 2 według Temat " congenital defects syndrome"
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RekordPentalogy of Cantrell: a case report(Akademia Bialska im. Jana Pawła II, 2024-05-17) Płusajska, Justyna ; Świercz, Grzegorz ; Młodawski, Jakub ; Malmur, Mariusz ; Zalega, MagdalenaCantrell’s pentalogy is a rare developmental disorder occurring between the 14th and 18th day of embryonic life. Diagnosis is possible in the first trimester, when the rupturing of the continuity of the anterior chest cavity and abdominal walls is usually found. Ectopic heart and umbilical hernia is also characteristic. In this article, a case of a thirty-three-year-old patient in second pregnancy was described, who was diagnosed with developmental disorders during a routine visit to a gynecologist. Woman was referred to the Laboratory of Prenatal Research, where the fetus was diagnosed with: umbilical cord hernia, diaphragmatic hernia with diaphragmatic defect, sternal defect, ectopic heart and pericardial defect, the swelling of the entire fetus – NT 5 mm – and the reverse flow in the DV were visualized. The woman and the child’s father, after having been presented with the prognosis, decided to terminate the pregnancy. Due to the heterogeneous picture of disorders occurring in pentalogy of Cantrell and the small number of cases described in the literature, each case should be approached with caution and in an individual manner. Abnormalities in the structure of the heart additionally compounded by coexisting disorders are crucial for the prognosis and they determine the method and order of treatment.