title: Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS).
abstract: OBJECTIVE
  The aim of this study is to describe a fetus with androgen insensitivity syndrome diagnosed at mid-second trimester.
  
  
  METHODS
  Nuchal translucency was measured thick and double test was found higher. The patient referred to our center at 16(th) 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 19(th) weeks and seen a female phenotype. The fetal gonads removed in abdomen and testicles confirmed histopatologically.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dicle University School of Medicine, Gynecology and Obstetrics, Turkey. ayalinkaya@dicle.edu.tr
authors.forename: Ahmet
authors.initials: A
authors.lastname: Yalinkaya
authors.forename: Murat
authors.initials: M
authors.lastname: Yayla
authors.forename: Mahmut
authors.initials: M
authors.lastname: Erdemoglu
mesh_terms: D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000196:embryology; D005260:Female; D006801:Humans; D008297:Male; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis