title: 45,X karyotype: may the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?
abstract: We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma. It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis; D005260:Female; D006801:Humans; D008202:Lymphangioma / Q000150:complications / Q000175:diagnosis; D009333:Neck; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis*; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins