Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing.
Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF-PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT.
Genea Genetics Sydney, New South Wales, Australia.
Nerida
N
Mansfield
Sydney Ultrasound for Women Sydney, New South Wales, Australia.
Tom
T
Boogert
Sydney Ultrasound for Women Sydney, New South Wales, Australia ; Discipline of Obstetrics, Gynaecology and Neonatology, Faculty of Medicine, University of Sydney Sydney, New South Wales, Australia.
Andrew
A
McLennan
CGH microarray; noninvasive prenatal testing (NIPT); sex discordance