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Rigshospitalet - a part of Copenhagen University Hospital
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45,X karyotype: may the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?

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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.

Original languageEnglish
JournalPrenatal Diagnosis
Volume1
Issue number4
Pages (from-to)281-3
Number of pages3
ISSN0197-3851
Publication statusPublished - Oct 1981

    Research areas

  • Adult, Amniocentesis, Amniotic Fluid, Female, Humans, Lymphangioma, Neck, Pregnancy, Pregnancy Trimester, Second, Prenatal Diagnosis, Turner Syndrome, Ultrasonography, alpha-Fetoproteins, Case Reports, Journal Article

ID: 53710684