title: Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology.
abstract: BACKGROUND
  About 10 -15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of the application of high throughput genetic technology, including array comparative genomic hybridization (array CGH) and next generation sequencing (NGS) on the chromosomal copy number analysis of CVSs from early spontaneous miscarriages.
  
  
  RESULTS
  Four hundred and thirty-six CVSs from early spontaneous abortion were collected. Genomic DNA was extracted using a routine method, and the chromosomal copy number variants (CNVs) were analyzed by array CGH and NGS. Two hundred and twenty-five samples (51.6 %) with abnormal chromosomes were identified among 436 samples, of which 188 samples (41.3 %) were aneuploidy, 23 samples (5.3 %) were segmental deletion and/or duplication cases, and 14 samples (3.2 %) were triploid. Two of the three cases with small segmental deletion and duplication were validated to be transferred from their fathers who were carriers of submicroscopic reciprocal translocation.
  
  
  CONCLUSIONS
  A high chromosomal abnormality detection rate on CVSs from early spontaneous miscarriage was achieved by array CGH and NGS. Specifically, the detection of submicroscopic recombination, which is sometimes missed by conventional karyotyping, was important for genetic counseling for the couples that suffered from recurrent miscarriages.
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Jiandong
authors.initials: J
authors.lastname: Shen
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Chao
authors.initials: C
authors.lastname: Gao
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Humphrey
authors.initials: H
authors.lastname: Ochin
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Dianyun
authors.initials: D
authors.lastname: Qu
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Jiazi
authors.initials: J
authors.lastname: Xie
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Li
authors.initials: L
authors.lastname: Gao
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Yadong
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Yugui
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Department of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, State Key Laboratory of Reproductive Medicine, Nanjing, 210029 China.
authors.forename: Jiayin
authors.initials: J
authors.lastname: Liu
keywords: Array comparative genomic hybridization; Chorionic villus samples; Chromosome; Next generation sequencing; Spontaneous miscarriage
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