Objective: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination.
Methods: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM.
Results: A total of 51 cases with UEM were detected. Eighteen cases (35.2%) had defects in the formation of body parts (absence of hand/forearm/digits); 25 cases (49%) had defects in differentiation (contractures, syndactyly), and 8 cases (15.6%) had duplication defects (polydactyly). The specificity of prenatal US for UEM was 96.2%. Ten cases (19.7%) had isolated UEM, and 41 cases (80.3%) had additional anomalies, most of which were cardiac, central nervous system, or facial malformations. Although chromosomal structure in isolated cases was normal in 9 of 10 cases (90%), 15 of 41 cases (36.5%) with multiple defects showed abnormal karyotypes. The chromosomal constituents of nine cases (17.6%) were not available. Although the postnatal outcome of isolated cases was favorable except for the presence of orthopedic problems, complex UEMs with or without abnormal karyotypes were always lethal (97.5%).
Conclusions: UEMs associated with other malformations are usually a sign of underlying severe chromosomal abnormalities, and the prognosis is poor. In contrast, chromosomal structure in isolated cases is normal, and the perinatal and postnatal outcomes are good. In general, US is an effective tool in differentiating fetuses with isolated UEM from those with UEM associated with additional malformations. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:267-276, 2017.
Keywords: obstetrics; perinatal outcome; prenatal diagnosis; ultrasonography; upper extremity malformation.
© 2016 Wiley Periodicals, Inc.