Prenatal Ultrasonographic Diagnosis of Ectopia Cordis, Membrane-Covered Omphalocele, Posterior Encephalocele, and Unilateral Microphthalmia in a 26-Week Fetus: A Case Report

Abstract

Multiple congenital fetal anomalies involving the anterior thoracoabdominal wall, cranial vault, and ocular structures are rare and are associated with high perinatal mortality and a poor prognosis. Prenatal ultrasonography plays a pivotal role in the early detection of these anomalies, facilitating accurate diagnosis, parental counselling, multidisciplinary management, and informed decision-making, particularly in resource-limited settings. We report the prenatal ultrasonographic diagnosis of multiple severe congenital anomalies in a 32-year-old gravida 4, para 3 woman who underwent a routine second-trimester fetal anomaly scan at 26 weeks' gestation. Two-dimensional ultrasonography demonstrated a live singleton fetus with ectopia cordis, a membrane-covered liver-containing omphalocele, posterior encephalocele, and unilateral microphthalmia. Because the cranial and anterior abdominal wall defects distorted the fetal anatomy, gestational age was determined using the femur length, which measured 45.3 mm, corresponding to 26 weeks' gestation. Spectral Doppler confirmed fetal cardiac activity with a heart rate of 128 beats per minute. The combination of ectopia cordis and omphalocele raised suspicion for an incomplete form of pentalogy of Cantrell, although definitive confirmation was not possible because fetal echocardiography, fetal magnetic resonance imaging, prenatal genetic testing, and postnatal pathological examination were unavailable. Following multidisciplinary counselling regarding the severe congenital anomalies and poor fetal prognosis, the parents elected medical termination of the pregnancy. This case highlights the diagnostic value of meticulous prenatal ultrasonography in identifying complex multisystem congenital anomalies, the importance of selecting unaffected biometric parameters when conventional measurements are unreliable, and the critical role of early diagnosis in facilitating appropriate counselling and individualized pregnancy management in resource-constrained healthcare settings.