title: Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis.
abstract: 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.
authors.affiliation: Section of Genetics, Pennsylvania Hospital, Philadelphia 19107.
authors.forename: A E
authors.initials: AE
authors.lastname: Donnenfeld
authors.forename: B
authors.initials: B
authors.lastname: Wiseman
authors.forename: E
authors.initials: E
authors.lastname: Lavi
authors.forename: S
authors.initials: S
authors.lastname: Weiner
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005312:Fetal Blood / Q000032:analysis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis*; D014463:Ultrasonography