Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS)

AbstractObjective The aim of this study is to describe a fetus with androgen insensitivity syndrome diagnosed at mid‐second trimester.Case and Methods Nuchal translucency was measured thick and double test was found higher. The patient referred to our center at 16th weeks of gestation. Fetal ultrasound examination and amniocentesis was performed.Results The nuchal translucency (NT) of fetus in present pregnancy was measured approximately 10 mm at 13 weeks and Down syndrome risk was calculated 1 in 10 by double test. On ultrasound examination; thick nuchal fold (NF) and short fetal limbs were found, and the fetus was seen a female and amniocentesis was performed. Three weeks later the fetal karyotype was reported normal as 46,XY. Thereupon the fetus reexamined for 2D and 4D ultrasound, and confirmed previous findings. The fetus was terminated at 19th weeks and seen a female phenotype. The fetal gonads removed in abdomen and testicles confirmed histopatologically.Conclusion In generally, diagnosis of AIS is most made postnatally. This is the second case in English literature, which diagnosed mid‐second trimester. In this situation, the fetus with thick NT/NF and short limbs may be AIS, therefore appearance of fetal sex on ultrasound should be compared with genetic sex Copyright © 2007 John Wiley & Sons, Ltd.