Pentalogy of Cantrell: A challenge in prenatal diagnosis. A case report in Bolivia

Abstract

Introduction. Pentalogy of Cantrell is a rare congenital anomaly with an incidence of less than one in 100,000 pregnancies. It is characterized by a defect in the abdominal wall at the level of the supraumbilical midline, the lower segment of the sternum, the anterior diaphragm, the diaphragmatic pericardium, and cardiac abnormalities such as ectopia cordis. Few cases of this entity have been reported in the literature in Bolivia. It is a constellation of congenital defects that pose a unique challenge, hence the importance of diagnosis in the prenatal stage. Clinical Case and Discussion. An 18-year-old pregnant woman came to our hospital, was consulted by Gynecology and Obstetrics, and an ultrasound was performed which revealed a defect in the anterior abdominal wall with viscera outside the fetal cavity (liver, heart, stomach and intestinal loops, 24.3 weeks of pregnancy and multiple fetal malformations. A discussion of the case was held with specialists in Gynecology and Obstetrics, Pediatrics, Genetics, Family Physician, Imaging and Psychology. Taking into account the poor prognosis and the complexity of the anomalies, the patient was told that this could represent a threat and risk for her. At the request of the parents and with prior informed consent, the patient was admitted to the gynecology service, prepared and admitted to the operating room for cesarean section. A female product was obtained, with multiple malformations, a large defect in the anterior thoracoabdominal wall from the navel to the upper third of the body of the sternum, omphalocele. Part of the heart outside the thoracic cavity, presence of a uterine cavity, and a large thoracic cavity. of defects in the diaphragm, liver and intestinal loops outside the abdominal cavity. Conclusions. The case highlights the importance of early prenatal diagnosis, even in settings with limited resources. Despite the lack of access to more complex studies, the appropriate use of ultrasound, combined with the expertise of the operator, allowed this complex congenital malformation to be identified at an early stage. The timely identification of these conditions not only facilitates multidisciplinary counseling for the pregnant woman and her family, but also opens the possibility of making informed decisions, including the option of terminating the pregnancy before the period of viability, if the parents so consider. In severe cases, such as ours, where the prognosis is generally unfavorable, an early diagnosis can better prepare families emotionally and psychologically, as well as allowing them to consider all possible options with due ethical and medical guidance.