The clinical value of prenatal ultrasound in the diagnosis of caudal regression syndrome.

Objective: Caudal regression syndrome (CRS) is a rare and fatal anomaly that can easily be missed in prenatal two-dimensional (2D) ultrasonography. This retrospective analysis aimed to determine the performance of combined 2D and three-dimensional (3D) ultrasound for the prenatal diagnosis of CRS.

Methods: We retrospectively analyzed 168 fetuses diagnosed with spinal lesions by combined 2D and 3D ultrasound at the First Affiliated Hospital of Anhui Medical University from January 2016 to June 2022. We analyzed the sonographic characteristics of these cases and assessed the diagnostic value of ultrasound in fetal CRS.

Results: Fourteen fetuses were confirmed to have CRS after labor induction and postpartum, and 13 of these were correctly identified by prenatal ultrasound imaging. The sensitivity, specificity, accuracy, and Youden index of prenatal ultrasound were 85.7%, 93.5%, 92.9%, and 0.79, respectively.

Conclusion: The typical prenatal sonographic features of CRS include different degrees of lumbar and sacrococcygeal spine loss combined with abnormal lower limb development. Prenatal ultrasound can assess the extent and location of lesions, highlighting its high diagnostic value.