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

• मुख्य लेखकों: Chih-Ping Chen (लेखक), Shu-Yuan Chang (लेखक), Chen-Ju Lin (लेखक), Schu-Rern Chern (लेखक), Peih-Shan Wu (लेखक), Shin-Wen Chen (लेखक), Shih-Ting Lai (लेखक), Tzu-Yun Chuang (लेखक), Wen-Lin Chen (लेखक), Chien-Wen Yang (लेखक), Wayseen Wang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2018-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...