Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome

• Main Authors: Chih-Ping Chen (Author), Schu-Rern Chern (Author), Chien-Hsing Lin (Author), Chin-Yuan Hsu (Author), Hsiang-Yu Lin (Author), Fang-Tzu Wu (Author), Shin-Wen Chen (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present detection of hypermethylation at H19 differentially methylated region (DMR) at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome (BWS). Case report: A 31-year-old, gravida 2, para 1, woman was referred for genetic counseling at 22 weeks...