title: Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection.
abstract: BACKGROUND
  To develop a novel preimplantation genetic screening (PGS) test using next generation sequencing(NGS) as a alternative to current array comparative genomic hybridization (array CGH) method for detection of small segmental translocations in two patients with repeated implantation failure (RIF) and recurrent miscarriage (RM). Inconsistent results were resolved by validation with fluorescence in situ hybridization (FISH).
  
  
  METHODS
  One couple with normal cytogenetic and array CGH result suffered from implantation failure. Later NGS analysis showed 46,XY.ngs[GRCh37/hg19] 9p24.3-9p24.1(10,291-8,680,890×1),13q33.1-13q34(103,046,327-114,785,444×3). The other couple with normal cytogenetic and array CGH result also received NGS analysis. Due to the detected abnormal finding, which was 46,XY.ngs 4q34.3-4q35.2(179,673,982-191,016,503×3),6p25.3-6p22.3 (146,672-17,829,693×1), the couple decided against the corresponding embryo transfer.
  
  
  CONCLUSIONS
  The NGS approach is a reliable alternative to array CGH for the discovery of small segmental translocations in patients with RIF and RM.
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Jian
authors.initials: J
authors.lastname: Ou
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Peking Jabrehoo Med Tech., Ltd, Beijing, P.R.China.
authors.forename: Tao
authors.initials: T
authors.lastname: Feng
authors.affiliation: Central Laboratory, The Union Hospital of Fujian Medical University, Fuzhou, Fujian P.R.China.
authors.forename: Lianming
authors.initials: L
authors.lastname: Liao
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Qingxia
authors.initials: Q
authors.lastname: Meng
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Qinyan
authors.initials: Q
authors.lastname: Zou
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Aiyan
authors.initials: A
authors.lastname: Zheng
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Chengying
authors.initials: C
authors.lastname: Duan
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Peipei
authors.initials: P
authors.lastname: Li
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Chunhua
authors.initials: C
authors.lastname: Lin
authors.affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
authors.forename: Hong
authors.initials: H
authors.lastname: Li
keywords: Array CGH; NGS; PGS; RIF; RM; Translocation