45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy? |
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| Authors: | Ann Tabor MD Jens Bang John Philip |
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| Affiliation: | Section of Clinical Genetics, Department of Obstetrics and Gynecology YA and Department of Pediatrics G, and Department of Diagnostic Ultrasound Y, Rigshospitalet, Copenhagen, Denmark |
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| 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. |
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| Keywords: | Turner's syndrome Cystic hygroma Alpha-fetoprotein |
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