Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound

• Main Authors: Chih-Ping Chen (Author), Shu-Yuan Chang (Author), Chen-Ju Lin (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Tzu-Yun Chuang (Author), Wen-Lin Chen (Author), Chien-Wen Yang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2018-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis of a familial 5p14.3-p14.1 deletion in a fetus with congenital heart disease on prenatal ultrasound. Case report: A 33-year-old woman underwent amniocentesis at 18 weeks of gestation because of fetal ventricular septal defect (VSD) and echogenic bowel on pren...