45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?

Abstract

AbstractWe 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.