title: Molecular analysis of DNA in blastocoele fluid using next-generation sequencing.
abstract: BACKGROUND
  Preimplantation genetic testing (PGT) requires an invasive biopsy to obtain embryonic material for genetic analysis. The availability of a less invasive procedure would increase the overall efficacy of PGT. The aim of the study was to explore the potential of blastocoele fluid (BF) as an alternative source of embryonic DNA for PGT.
  
  
  METHODS
  Collection of BF was performed by aspiration with a fine needle prior to vitrification. BF DNA was subjected to whole-genome amplification (WGA) and analyzed by high-resolution next-generation sequencing (NGS).
  
  
  RESULTS
  A high-quality WGA product was obtained from 8 of 11 (72.7 %) samples. Comparison of matching BF and blastomere samples showed that the genomic representation of sequencing reads was consistently similar with respect to density and regional coverage across the 24 chromosomes. A genome-wide survey of the sample sequencing data also indicated that BF was highly representative of known single gene sequences, and this observation was validated by PCR analyses of ten randomly selected genes, with an overall efficiency of 84 %.
  
  
  CONCLUSIONS
  This study provides further evidence that BF is a promising alternative source of DNA for PGT.
authors.affiliation: School of Medicine, Nankai University, Tianjin, 300071, China.|Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: Yixin
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Obstetrics and Gynecology, Affiliated Hospital of Academy of Military Medical Sciences, Beijing, 100071, China.
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.|Center for Reproductive Medicine, The First Hospital of Kunming, Kunming, 650011, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China.
authors.forename: Huiying
authors.initials: H
authors.lastname: Sun
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: 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: Xiaofei
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: Wenke
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China.
authors.forename: Yingyu
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Berry Genomics, Co., Ltd., Beijing, 100015, China.
authors.forename: David S
authors.initials: DS
authors.lastname: Cram
authors.affiliation: Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China. sunbf@big.ac.cn.
authors.forename: Baofa
authors.initials: B
authors.lastname: Sun
authors.affiliation: Department of Obstetrics and Gynecology, Chinese PLA General Hospital, Beijing, 100853, China. yuanqingy@sina.cn.
authors.forename: Yuanqing
authors.initials: Y
authors.lastname: Yao
mesh_terms: D001757:Blastomeres; D019295:Computational Biology; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D016133:Polymerase Chain Reaction; D019836:Preimplantation Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA
keywords: Bioinformatics; Blastocoele fluid; Blastomere; Next-generation sequencing; Preimplantation genetic testing