Androgen insensitivity syndrome: in utero diagnosis by four-dimensional sonography and amniotic fluid karyotype
Fernando Bonilla-Musoles1, Luis Kushner-Dávalos, Francisco Raga
1Department of Obstetrics and Gynecology, Valencia School of Medicine, Hospital Clínico Blasco Ibáņez, 17 46010 Valencia, Spain.
Abstract:
We describe a fetus with androgen insensitivity syndrome diagnosed at 16 weeks' gestation with two-dimensional (2D) and four-dimensional (4D) sonography and karyotype analysis in a 37-year-old pregnant woman. Two-dimensional (2D) sonography revealed a female phenotype. Karyotype analysis revealed an unremarkable 46,XY chromosomal complement. Repeat 4D sonography confirmed a female phenotype with edematous labia majora, consistent with androgen insensitivity syndrome.
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