title: Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization.
abstract: BACKGROUND
  Cytogenetic analysis of products of conception (POC) is essential for the management of recurrent pregnancy loss (RPL), but the currently-performed G-banding method is not necessarily applicable to spontaneously discharged POC because of poor quality for culture. We analyzed the karyotypes of 15 spontaneously discharged POC by array-based comparative genomic hybridization (array-CGH).
  
  
  RESULTS
  All specimens were successfully analyzed and 10 cases had abnormal results: gain in copy number (n = 7) and loss in copy number (n = 3). Most of them were estimated to be whole chromosome aneuploidy, whereas one case was compatible with microdeletion. Two cases were suspected to be male diploid contaminated by maternal DNA or triploid because of the unsatisfactory signal patterns on X/Y chromosomes. Two of three cases with normal female DNA pattern were identified to be contaminated with maternal DNA by the additional analysis of short tandem repeats.
  
  
  CONCLUSIONS
  Given the potential to analyze non-viable POC specimens, array-CGH is a feasible cytogenetic tool for women, in particular, with a history of RPL who desire non-surgical or expectant management of miscarriages and/or a thorough investigation on the cause for recurrent miscarriage, although it needs to take into account high incidence of maternal contamination in spontaneously discharged POC.
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535 Japan.
authors.forename: Nobuaki
authors.identifier: 0000-0002-1748-1635
authors.initials: N
authors.lastname: Ozawa
authors.affiliation: Center of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535 Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Sago
authors.affiliation: Department of Pathology, National Center for Child Health and Development, Tokyo, Japan ; Department of Pathology, Kitasato Institute Hospital, Tokyo, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Matsuoka
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Maruyama
authors.affiliation: Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan ; Department of Clinical Genetics, St. Marianna University School of Medicine, Kawasaki, Japan.
authors.forename: Ohsuke
authors.initials: O
authors.lastname: Migita
authors.affiliation: Division of Advanced Technology and Development, BML, Inc., Kawagoe, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Aizu
authors.affiliation: Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan ; Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Johji
authors.initials: J
authors.lastname: Inazawa
keywords: Array-based comparative genomic hybridization (array-CGH); Chromosomal abnormality; Products of conception (POC); Recurrent pregnancy loss (RPL); Short tandem repeat (STR)