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A FALSE‐POSITIVE DIAGNOSIS OF TURNER SYNDROME BY AMNIOCENTESIS
Author(s) -
GRIFFITHS M. J.,
MILLER P. R.,
STIBBE H. M.
Publication year - 1996
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/(sici)1097-0223(199605)16:5<463::aid-pd876>3.0.co;2-n
Subject(s) - amniocentesis , karyotype , fetus , gestation , amniotic fluid , turner syndrome , obstetrics , pregnancy , twin pregnancy , prenatal diagnosis , medicine , gynecology , aneuploidy , amniotic sac , biology , endocrinology , genetics , chromosome , gene
A 45,X karyotype was observed in all cells examined from an amniotic fluid sample taken at 16 weeks' gestation from a 37‐year‐old patient referred because of her age. Following termination of the pregnancy, all cells examined from fetal tissues (cardiac blood, skin, and muscle) showed a 46,XX karyotype. The most likely explanation for the discordant results is thought to be a dizygotic twin pregnancy with a normal fetus and an empty sac, the latter being sampled at amniocentesis resulting in a 45,X karyotype.