The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.
Matthew Hoi Kin ChauDoris Yuk Man LamXiaofan ZhuYvonne Ka Yin KwokYuen Ha TingWan Pang ChanMengmeng ShiSunny Wai Hung CheungTze Kin LauYves VilleTak Yeung LeungKwong-Wai ChoyPublished in: Prenatal diagnosis (2020)
We report the ability of genome-wide cfDNA screening to provide early suspicion and facilitate the subsequent genetic diagnosis of PKS. As genome-wide cfDNA screening becomes increasingly available, incidental diagnosis of partial aneuploidies is expected to increase.