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

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

Nobuaki Ozawa  1 , Haruhiko Sago  1 , Kentaro Matsuoka  2 , Tetsuo Maruyama  3 , Ohsuke Migita  4 , Yoshinori Aizu  5 , Johji Inazawa  6
Affiliations

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

Nobuaki Ozawa et al. Springerplus. .

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).

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Figures

Fig. 1
Fig. 1
GDA results (Cases 6 and 11). The x-axis indicates array spots of BAC clones ordered from chromosomes 1–22, X and Y. The y-axis shows the fluorescence ratio of differently labeled sample/control DNA. The color bars indicate the regions of genetic diseases included in the respective GDA. a In Case 6, copy-number gain was recognized on all clones of chromosome 16 and X/Y signal patterns indicated that the case has the reverse gender to control. Accordingly, this case was estimated as a female with trisomy 16. b Case 11 was estimated as trisomy 15 with unsatisfactory signals on X/Y regions as indicated by a dotted line box. Each arrow indicates duplication signals on the corresponding chromosomal region
Fig. 2
Fig. 2
STR analysis result (Case 3). PCR products were visualized with the CEQ 8000 (Beckman Coulter). Both DNA samples from putative chorionic villi and maternal blood proved to have the same polymorphism patterns by STR analysis
See this image and copyright information in PMC

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