Targeted prenatal diagnosis of Pallister-Killian syndrome.
Anna M Kucinska-ChahwanJulia BijokSylwia DąbkowskaAnna JóźwiakAlicja IlnickaBeata NowakowskaGrzegorz JakielTomasz RoszkowskiPublished in: Prenatal diagnosis (2017)
In case of ultrasound evaluation of features frequent and distinctive for PKS in second and third trimesters of pregnancy, targeted diagnosis should be considered. Amniotic fluid instead of cord blood collection is preferable. Communication with the laboratory is important because modification of routine procedures enhances a chance for correct diagnosis. © 2017 John Wiley & Sons, Ltd.