title: A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens.
abstract: OBJECTIVE
  Chromosomal abnormalities such as aneuploidy have been shown to be responsible for causing spontaneous abortion. Genetic evaluation of abortions is currently underperformed. Screening for aneuploidy in the products of conception can help determine the etiology. We designed a high-throughput ligation-dependent probe amplification (HLPA) assay to examine aneuploidy of 24 chromosomes in miscarriage tissues and aimed to validate the performance of this technique.
  
  
  METHODS
  We carried out aneuploidy screening in 98 fetal tissue samples collected from female subjects with singleton pregnancies who experienced spontaneous abortion. The mean maternal age was 31.6 years (range: 24-43), and the mean gestational age was 10.2 weeks (range: 4.6-14.1). HLPA was performed in parallel with array comparative genomic hybridization, which is the gold standard for aneuploidy detection in clinical practices. The results from the two platforms were compared.
  
  
  RESULTS
  Forty-nine out of ninety-eight samples were found to be aneuploid. HLPA showed concordance with array comparative genomic hybridization in diagnosing aneuploidy.
  
  
  CONCLUSIONS
  High-throughput ligation-dependent probe amplification is a rapid and accurate method for aneuploidy detection. It can be used as a cost-effective screening procedure in clinical spontaneous abortions. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Institute of Embryo-Fetal Original Adult Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Songchang
authors.initials: S
authors.lastname: Chen
authors.affiliation: Genesky Diagnostics (Suzhou) Inc., Suzhou, Jiangsu, China.
authors.forename: Deyuan
authors.initials: D
authors.lastname: Liu
authors.affiliation: Institute of Embryo-Fetal Original Adult Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Junyu
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Institute of Embryo-Fetal Original Adult Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Shuyuan
authors.initials: S
authors.lastname: Li
authors.affiliation: International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Lanlan
authors.initials: L
authors.lastname: Zhang
authors.affiliation: International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Jianxia
authors.initials: J
authors.lastname: Fan
authors.affiliation: Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Luo
authors.affiliation: Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
authors.forename: Yeqing
authors.initials: Y
authors.lastname: Qian
authors.affiliation: Institute of Embryo-Fetal Original Adult Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Key Laboratory of Reproductive Genetics, (Zhejiang University), Ministry of Education, Hangzhou, China.
authors.forename: Hefeng
authors.initials: H
authors.lastname: Huang
authors.affiliation: Genesky Diagnostics (Suzhou) Inc., Suzhou, Jiangsu, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Liu
authors.affiliation: Genesky Diagnostics (Suzhou) Inc., Suzhou, Jiangsu, China.
authors.forename: Huanhuan
authors.initials: H
authors.lastname: Zhu
authors.affiliation: Genesky Diagnostics (Suzhou) Inc., Suzhou, Jiangsu, China.
authors.forename: Zhengwen
authors.initials: Z
authors.lastname: Jiang
authors.affiliation: Institute of Embryo-Fetal Original Adult Disease, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.|Key Laboratory of Reproductive Genetics, (Zhejiang University), Ministry of Education, Hangzhou, China.
authors.forename: Chenming
authors.initials: C
authors.lastname: Xu
mesh_terms: D000022:Abortion, Spontaneous / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D056915:DNA Copy Number Variations; D005260:Female; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D022521:Ligase Chain Reaction / Q000379:methods; D011247:Pregnancy; D055815:Young Adult