Congenital anomalies of upper extremities: prenatal ultrasound diagnosis, significance, and outcome

Abstract

Objective: We sought to assess the role of ultrasound in the prenatal characterization of fetal malformations of the upper extremities (MUE).

Study design: Ultrasound findings, associated anomalies, pregnancy, and fetoneonatal outcome were analyzed in 100 fetuses with MUE, categorized after Swanson classification of hand congenital abnormalities. Follow-up information was available in all.

Results: Twelve cases had an isolated defect, while 88 showed associated abnormalities involving other organ systems. Fetuses with multiple malformations showed a 76% syndromic risk (32% chromosomal, 41% nonchromosomal), with unfavorable outcome in almost all cases (only 4 survivors, 2 with neurodevelopmental delay). In 27% of syndromic fetuses, the sonographic evidence of the MUE represented the key finding leading to the final diagnosis. The prognosis was usually favorable in cases of isolated defects.

Conclusion: A thorough prenatal ultrasound characterization of fetal MUE can assist in the differential diagnosis of many syndromic conditions. When isolated, MUE tend to have a good outcome.