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45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?
Author(s) -
Tabor Ann,
Bang Jens,
Philip John
Publication year - 1981
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.1970010408
Subject(s) - cystic hygroma , amniocentesis , turner syndrome , in utero , obstetrics , medicine , karyotype , pregnancy , second trimester , amniotic fluid , aneuploidy , prenatal diagnosis , gynecology , gestation , down syndrome , fetus , pediatrics , biology , chromosome , genetics , psychiatry , gene
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 .