Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency

• Main Authors: Wen-Bin He (Author), Yue-Qiu Tan (Author), Xiao Hu (Author), Wen Li (Author), Bo Xiong (Author), Ke-Li Luo (Author), Fei Gong (Author), Guang-Xiu Lu (Author), Ge Lin (Author), Juan Du (Author)
• Format: Book
• Published: BMC, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to...