The utility of prenatal ultrasound as a screening tool for upper extremity congenital anomalies

Purpose To quantify the detection rate and accuracy of prenatal ultrasound in patients with congenital upper extremity anomalies. Methods A total of 100 patients with congenital upper extremity reduction or duplication anomalies were enrolled prospectively in this investigation at the initial visit to our congenital hand clinic. Demographic and pregnancy-related data were collected along with prenatal diagnoses. We recorded all ultrasound-identified upper extremity anomalies as reported by the parents. Finally, we compared the prenatal diagnosis with the final congenital hand clinic diagnosis. Results The first ultrasound was performed at a mean 11 weeks' gestation, and patients underwent an average of 8 prenatal ultrasounds (range, 1-40 prenatal ultrasounds). Sixty patients underwent standard ultrasound and 40 had a 3-dimensional ultrasound as well. Of the 100 patients, 31 had an upper extremity anomaly by ultrasound. Of the 31 prenatal ultrasound diagnoses, 18 were confirmed as accurate during evaluation in the congenital hand clinic. Three-dimensional ultrasound was more sensitive for the detection of upper extremity anomalies. Conclusions The overall detection rate and accuracy of ultrasonography for upper extremity anomalies were low despite advancements in imaging technology. Type of study/level of evidence Diagnostic II.