TY - JOUR
T1 - Congenital anomalies of upper extremities
T2 - prenatal ultrasound diagnosis, significance, and outcome
AU - Paladini, Dario
AU - Greco, Elena
AU - Sglavo, Gabriella
AU - DArmiento, Maria Rosaria
AU - Penner, Ilaria
AU - Nappi, Carmine
PY - 2010/6
Y1 - 2010/6
N2 - 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.
AB - 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.
KW - 3-dimensional ultrasound
KW - malformation
KW - prenatal diagnosis
KW - ultrasound
KW - upper extremities
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U2 - 10.1016/j.ajog.2009.11.040
DO - 10.1016/j.ajog.2009.11.040
M3 - Article
C2 - 20171607
AN - SCOPUS:77952742249
VL - 202
JO - American Journal of Obstetrics and Gynecology
JF - American Journal of Obstetrics and Gynecology
SN - 0002-9378
IS - 6
ER -