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J Prenat Med. 2009 Apr;3(2):18-22.

Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography.

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Operative Unit of Gynecology and Obstetrics, Policlinico Universitario "G. Martino", Messina, Italy.


Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established. A careful description of the abnormality using the rigth nomenclature is the first step. Looking for other associated abnormalities is the threshold to suspect chromosomal abnormalities or single gene disorder. According to the patogenic point of view, limb abnormalities may be the result of malformation, deformation, or disruption. The prenatal diagnosis and the management of limb abnormalities involve a multidisciplinary team of ostetrician, radiologist/sonologist, clinical geneticist, neonatologist, and orthopedic surgeons to provide the parents with the information regarding etiology of the disorder, prognosis, option related to the pregnancy and recurrence risk for future pregnancies.The aim of this review is to describe the importance of detailed fetal ultrasonography in prenatal diagnosis of limb abnormalities.


fetal ultrasonography; limb abnormalities; prenatal diagnosis

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