title: Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations.
abstract: OBJECTIVE
  The purpose of this study was to apply next-generation sequencing (NGS) technology to identify chromosomally normal embryos for transfer in preimplantation genetic diagnosis (PGD) cycles for translocations.
  
  
  METHODS
  A total of 21 translocation couples with a history of infertility and repeated miscarriage presented at our PGD clinic for 24-chromosome embryo testing using copy number variation sequencing (CNV-Seq).
  
  
  RESULTS
  Testing of 98 embryo samples identified 68 aneuploid (69.4 %) and 30 (30.6 %) euploid embryos. Among the aneuploid embryos, the most common abnormalities were segmental translocation imbalances, followed by whole autosomal trisomies and monosomies, segmental imbalances of non-translocation chromosomes, and mosaicism. In all unbalanced embryos resulting from reciprocal translocations, CNV-Seq precisely identified both segmental imbalances, extending from the predicted breakpoints to the chromosome termini. From the 21 PGD cycles, eight patients had all abnormal embryos and 13 patients had at least one normal/balanced and euploid embryo available for transfer. In nine intrauterine transfer cycles, seven healthy babies have been born. In four of the seven children tested at 18 weeks gestation, the karyotypes matched with the original PGD results.
  
  
  CONCLUSIONS
  In clinical PGD translocation cycles, CNV-Seq displayed the hallmarks of a comprehensive diagnostic technology for high-resolution 24-chromosome testing of embryos, capable of identifying true euploid embryos for transfer.
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.|Department of Obstetrics and Gynecology, Affiliated Hospital of the Chinese People's Armed Police Force Logistics College, Tianjin, 300162, China.
authors.forename: Wenke
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Center for Reproductive Medicine, 181st Hospital of Chinese PLA, Guilin, 541002, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.|Center for Reproductive Medicine, First Hospital of Kunming (Calmette International Hospital), Kunming, 650224, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: Minyue
authors.initials: M
authors.lastname: Ma
authors.affiliation: Berry Genomics Corporation, Beijing, 100015, China.
authors.forename: Mengnan
authors.initials: M
authors.lastname: Xu
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: ZhiYing
authors.initials: Z
authors.lastname: Gao
authors.affiliation: Center for Reproductive Medicine, 181st Hospital of Chinese PLA, Guilin, 541002, China.
authors.forename: Jinliang
authors.initials: J
authors.lastname: Duan
authors.affiliation: Berry Genomics Corporation, Beijing, 100015, China. david.cram@berrygenomics.com.
authors.forename: David S
authors.initials: DS
authors.lastname: Cram
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China. yqyao_ghpla@163.com.
authors.forename: Yuanqing
authors.initials: Y
authors.lastname: Yao
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000196:embryology*; D056915:DNA Copy Number Variations / Q000235:genetics*; D004624:Embryo Transfer / Q000379:methods*; D005260:Female; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D007621:Karyotyping; D010865:Pilot Projects; D011247:Pregnancy; D018873:Pregnancy Rate; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic / Q000235:genetics; D016896:Treatment Outcome
keywords: Aneuploidy; Copy number variation; Next-generation sequencing; Preimplantation genetic diagnosis; Whole genome amplification