title: [Detection for chromosomal aberrations in 43 fetuses with spontaneous abortion and stillbirth by array-based comparative genomic hybridization].
abstract: OBJECTIVE
  To assess the value of array-based comparative genomic hybridization (array-CGH) for analyzing tissues derived from spontaneous abortion and stillbirth.
  
  
  METHODS
  Agilent Human Genome CGH Microarray 4×44 K chip and Affymetrix Cytoscan 750 K Array were utilized to detect genome-wide copy number variations (CNV) in 43 fetuses with spontaneous abortion and stillbirth. All identified CNV were analyzed with references from Database of Genomic variants (DGV), database of DECIPHER, ISCA and OMIM, as well as comprehensive literature review to determine whether the identified CNVs were pathogenic. Parental DNA of two cases was also analyzed with the same arrays for pathogenic or unknown significant CNVs.
  
  
  RESULTS
  All of the 43 specimens were successfully analyzed. Clinically significant chromosomal aberrations were identified in 32 (74.4%) of the samples, which included 26 aneuploidies and 10 pathogenic CNV.
  
  
  CONCLUSIONS
  Array-CGH is a fast and effective method for analyzing tissues derived from spontaneous abortions and stillbirths which may be difficult to culture for karyotype analysis.
authors.affiliation: Key Laboratory for Reproductive Medicine of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Center for Reproduction Medicine, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, P.R.China. lucychen23@aliyun.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Yafei
authors.initials: Y
authors.lastname: Gong
authors.forename: Hanyan
authors.initials: H
authors.lastname: Liu
authors.forename: Yanqin
authors.initials: Y
authors.lastname: Song
authors.forename: Wenyin
authors.initials: W
authors.lastname: He
authors.forename: Jun
authors.initials: J
authors.lastname: Wei
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
authors.forename: Xinjie
authors.initials: X
authors.lastname: Chen
mesh_terms: D000022:Abortion, Spontaneous / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D005260:Female; D005333:Fetus / Q000737:chemistry; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000235:genetics*; D050497:Stillbirth / Q000235:genetics*; D055815:Young Adult