Androgen insensitivity syndrome screening

Androgen insensitivity syndrome Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

The diagnosis of AIS is mostly made postnatally. Studies have shown that the AIS may be identified prenatally by imaging techniques and comparative study.

Screening

• The diagnosis of AIS is mostly made postnatally. But, in a study which diagnosed mid-second trimester fetus with thick nuchal translucency (NT) / nuchal fold (NF) and short limbs was likely to be AIS. Hence, appearance of fetal sex on ultrasound should be compared with genetic sex.