Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos

• DOI: 10.1073/pnas.1715053114
• Publication Date: 2017-10-03T00:40:29Z
• Authors: Jiawei Xu; Zhen Zhang; Wenbin Niu; Qingling Yang; Guidong Yao; Senlin Shi; Haixia Jin; Wenyan Song; Lei Chen; Xiangyang Zhang; Yihong Guo; Yingchun Su; Linli Hu; Jun Zhai; Yile Zhang; Fangli Dong; Yumei Gao; Wenhui Li; Shiping Bo; Mintao Hu; Jun Ren; Lei Huang; Sijia Lu; X. Sunney Xie; Yingpu Sun
• Keywords: Chromosome Aberrations; Male; 0301 basic medicine; Genetic Carrier Screening; Pregnancy Outcome; Fertilization in Vitro; Embryo Transfer; Translocation, Genetic; 03 medical and health sciences; Blastocyst; 0302 clinical medicine; Pregnancy; Infertility; Humans; Female; Live Birth; Alleles; Preimplantation Diagnosis

Significance In in vitro fertilization, it is difficult, if not impossible, with current methods to determine whether an embryo carries a chromosomal translocation. We have established a method for diagnosing chromosome abnormality named “Mapping Allele with Resolved Carrier Status” (MaReCs), which enables simultaneous screening of chromosomal ploidy and translocation in an embryo by next-generation sequencing. We demonstrate and validate that MaReCs allows accurate selection of translocation-free embryos, preventing the transmission of chromosomal translocations to future generations.