Abstract
This study aims to explore the diagnostic value of prenatal ultrasound in limb body wall complex (LBWC) during pregnancy and to improve the understanding of LBWC for early ultrasound diagnosis. The ultrasound data and follow-up results of 107 cases of LBWC (predominantly diagnosed in the first trimester) from the Third Affiliated Hospital of Zhengzhou University between 2014 and 2024 were retrospectively analyzed. The ultrasonographic features and fetal karyotype of LBWC were evaluated. The cohort included 107 LBWC fetuses (90 singletons and 17 twins). The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed short umbilical cord with a single artery. Notably, 38 cases clearly demonstrated fetal extruded organs located within the extraembryonic celom. Genetic testing (7 CNV-seq, 12 CMA, 1 karyotype only) in 20 cases revealed normal results in 18 without clear cause and effect in the remaining two. Selective fetal reduction was performed in four twin pregnancies, resulting in successful delivery of healthy neonate; all remaining cases underwent pregnancy termination. LBWC is a severe developmental malformation with a very poor prognosis. Ultrasonography enables early detection during the first trimester, demonstrating critical diagnostic value in prenatal screening and pregnancy management.