Antenatal diagnosis of lethal multisystem fetal anomalies: a case report Lethal Multisystem Fetal Anomalies

Abstract

Background: Multiple congenital anomalies are an important cause of perinatal morbidity and mortality, particularly when abnormalities involve several organ systems. Antenatal ultrasonography is essential for early recognition of major structural abnormalities and for appropriate parental counseling. 

Case presentation: A 33-year-old woman was referred at 34 weeks of gestation for detailed fetal ultrasonography because of a previous intrauterine fetal demise associated with an undiagnosed congenital anomaly. The current pregnancy was complicated by severe polyhydramnios. Ultrasound demonstrated discordant fetal biometry, a large umbilical vein varix, non-visualization of the stomach, collapsed bowel loops, hepatomegaly, a small thoracic cavity, leftward displacement of the heart, clubfoot, and generalized fetal skin edema. The fetal brain and spine appeared normal, whereas facial assessment was limited by fetal position. The combination of severe polyhydramnios and multiple structural abnormalities raised strong suspicion of a severe multisystem congenital anomaly with a poor prognosis. Following delivery, esophageal atresia and severe pulmonary hypoplasia were confirmed, and the neonate died within a few minutes of birth.

Conclusion: This case highlights the importance of systematic antenatal anomaly assessment, particularly in pregnancies complicated by severe polyhydramnios and a previous pregnancy affected by congenital anomalies. Early detailed ultrasound examination may facilitate recognition of lethal abnormalities, multidisciplinary counseling, and appropriate pregnancy and perinatal management.