Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome

• Main Authors: Chih-Ping Chen (Author), Yi-Ning Su (Author), Tung-Yao Chang (Author), Schu-Rern Chern (Author), Chen-Yu Chen (Author), Jun-Wei Su (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2013-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present prenatal ultrasound and molecular genetic diagnosis of Apert syndrome. Case Report: A 30-year-old, gravida 3, para 2 woman was referred for genetic counseling at 32 weeks of gestation because of polyhydramnios and craniofacial and digital abnormalities in the fetus. She had und...