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Fetal gender: antenatal discrepancy between phenotype and genotype
Author(s) -
Bretelle F.,
Salomon L.,
Senat M.V.,
Vialard F.,
Albert M.,
Roume J.,
Ville Y.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2002.00778.x
Subject(s) - chorionic villus sampling , amniocentesis , medicine , fetus , karyotype , obstetrics , prenatal diagnosis , gynecology , chorionic villi , y chromosome , pregnancy , chromosome , genetics , biology , gene
Sexual discrepancy is reported in both 46,XY females and 46,XX males, and most diagnoses of sex reversal are made in the postpubertal period. We report three cases of sexual discrepancy, which were revealed by karyotyping following genetic amniocentesis, chorionic villus sampling and fetal blood sampling. The etiologies of 46,XX male, 45,X male and 46,XY female subjects are reviewed. When sexual discrepancy between fetal karyotype and ultrasonographic fetal phenotype is encountered, sample error and placental mosaicism should be excluded. A detailed fetal ultrasound examination should be performed to check for syndromic gender discrepancy. When repeat karyotyping is indicated, localization of the Sox related Y chromosome gene should be carried out. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology