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Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis
Author(s) -
Donnenfeld Alan E.,
Wiseman Barbara,
Lavi Ehud,
Weiner Stuart
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100106
Subject(s) - prenatal diagnosis , medicine , ultrasound , prenatal ultrasound , fetus , obstetrics , pregnancy , ultrasonography , surgery , radiology , genetics , biology
The prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome, utilizing ultrasound and cordocentesis, is described. To our knowledge, this represents the first prenatal diagnosis of this condition in an index case. The diagnostic evaluation of a fetus with upper extremity limb reduction defects is discussed.