Exploring the Relationship between Fetal Malformations and Perinatal Outcomes: A Case Report of Stillbirth

Abstract

Stillbirth remains a devastating perinatal outcome. This case report details the fetal and postmortem findings of a stillborn male fetus with severe lower limb reduction defects. It highlights the critical relationship between antenatally detectable anomalies, uteroplacental insufficiency, and fetal demise. A 28-year-old woman with an unremarkable medical history presented for routine prenatal care. First-trimester combined screening was low-risk for common aneuploidies. At 18 weeks, ultrasound revealed a short fetal nasal bone and moderate polyhydramnios; parents declined non-invasive prenatal testing. At 22.5 weeks, detailed ultrasonography demonstrated absent right tibia and fibula, absent left fibula, short and bowed left tibia, bilateral talipes equinovarus, and partial left-hand absence. At 26 weeks, uterine artery Doppler showed notching and an elevated resistance index, indicating uteroplacental insufficiency. Despite bi-weekly biophysical profiles, fetal demise was confirmed at 32 weeks. Examination of the stillborn fetus showed symmetrical limb development, intact cord, and normal external genitalia (male); however, internal autopsy was refused. This case illustrates the complexity of managing pregnancies complicated by fetal limb malformations and concurrent uteroplacental insufficiency. The absence of internal autopsy and genetic testing limited definitive syndromic classification, but does not diminish the importance of reporting the association between structural anomalies and stillbirth. 

CBMJ 2026 July: Vol. 15 No. 02 P:404-408