Pentalogy of Cantrell Marked With Ectopia Cordis, Gastroschisis, and Cystic Hygroma in the First Trimester: A Rare Case

Pentalogy of Cantrell is a rare congenital syndrome characterized by defects in the abdominal wall, sternum, diaphragm, and heart. A severe manifestation of this syndrome is ectopia cordis, where the heart is located partially or entirely outside the chest cavity. Gastroschisis involves a defect in the abdominal wall, where the intestines protrude outside the abdomen without a protective membrane. Cystic hygroma is a malformation of the lymphatic system leading to fluid-filled cysts. We present the case of a 29-year-old G3P0020 female initially seen for obstetric follow-up due to a threatened abortion at 11 weeks of gestation with vaginal bleeding. During a routine limited outpatient ultrasound at 11 weeks and four days of gestation, the heart was found to be entirely extrathoracic. Further ultrasound imaging confirmed the presence of ectopia cordis, gastroschisis, and cystic hygroma. Despite the poor prognosis and high risk of intrauterine fetal demise, the patient was referred to a higher-level care facility. This case highlights the critical role of first-trimester ultrasound in diagnosing severe fetal anomalies and the importance of early recognition and prompt referral for the best possible outcomes.