Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization

Nobuaki Ozawa; Haruhiko Sago; Kentaro Matsuoka; Tetsuo Maruyama; Ohsuke Migita; Yoshinori Aizu; Johji Inazawa

doi:10.1186/s40064-016-2594-6

Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization

Springerplus. 2016 Jun 24;5(1):874. doi: 10.1186/s40064-016-2594-6. eCollection 2016.

Authors

Nobuaki Ozawa¹, Haruhiko Sago¹, Kentaro Matsuoka², Tetsuo Maruyama³, Ohsuke Migita⁴, Yoshinori Aizu⁵, Johji Inazawa⁶

Affiliations

¹ 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.
² Department of Pathology, National Center for Child Health and Development, Tokyo, Japan ; Department of Pathology, Kitasato Institute Hospital, Tokyo, Japan.
³ Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan.
⁴ 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.
⁵ Division of Advanced Technology and Development, BML, Inc., Kawagoe, Japan.
⁶ Department of Molecular Cytogenetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan ; Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan.

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.

Keywords: Array-based comparative genomic hybridization (array-CGH); Chromosomal abnormality; Products of conception (POC); Recurrent pregnancy loss (RPL); Short tandem repeat (STR).