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

Dario Paladini, Elena Greco, Gabriella Sglavo, Maria Rosaria DArmiento, Ilaria Penner, Carmine Nappi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalAmerican Journal of Obstetrics and Gynecology
Issue number6
Publication statusPublished - Jun 2010


  • 3-dimensional ultrasound
  • malformation
  • prenatal diagnosis
  • ultrasound
  • upper extremities

ASJC Scopus subject areas

  • Obstetrics and Gynaecology


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