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Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender

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In this case report, a pregnant woman chose non-invasive prenatal testing (NIPT) following a combined first-trimester screening showing a risk of trisomy 21 at 1:200. The NIPT was normal, and the sex of the fetus was predicted to be male. At 20 gestational weeks, an ultrasound examination predicted the fetus to be female. Because of these discordant results, an amniocentesis was offered but declined. The child was postnatally tested with a karyotype: 46,XY and found heterozygous for a pathogenic variant in the androgen receptor gene, which may cause partial or complete androgen insensitivity syndrome.

Original languageEnglish
JournalUgeskrift for Laeger
Volume181
Issue number51
ISSN0041-5782
Publication statusPublished - 16 Dec 2019

ID: 59064636