Premium
Preimplantation genetic testing of Robertsonian translocation by SNP array‐based preimplantation genetic haplotyping
Author(s) -
Wang Jing,
Zeng Yanhong,
Ding Chenhui,
Cai Bin,
Lu Baomin,
Li Rong,
Xu Yan,
Xu Yanwen,
Zhou Canquan
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5258
Subject(s) - robertsonian translocation , chromosomal translocation , biology , preimplantation genetic diagnosis , genetics , haplotype , snp , genetic testing , single nucleotide polymorphism , computational biology , chromosome , embryo , karyotype , genotype , gene
What's already known about this topic? With the recent development of high‐throughput genome‐wide technologies, access to comprehensive chromosome screening has improved the clinical outcomes of preimplantation genetic testing. However, only a few studies have reported clinical applications of these methods to differentiate normal embryos from balanced translocation carriers. What does this study add? This study reports the clinical applications to distinguish embryos carrying Robertsonian translocations, simultaneously with CCS, based on a single nucleotide polymorphism array platform. It offers a feasible approach to identify normal embryos and carriers. Finally, the results of this study could prevent Robertsonian translocations from being passed to subsequent generations.