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Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

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Abstract

Purpose

Karyotype is a well established technique in the study of spontaneous miscarriages but is associated with selective overgrowth of maternal cells and other culture artefact (spp) such as tetraploidy, which could mask the true karyotype of the conceptus.

Methods

328 cases of pregnancy losses were studied by karyotype and Multiplex Ligation Dependent Probe Amplification technique. Touch FISH performed in non-cultured cells was used to evaluate the ploidy complement and sex discrepancies using centromeric probes for chromosomes X, Y and 18.

Results

Touch FISH confirmed 13 cases of maternal contamination, identified a triploidy and a monosomy X. True tetraploidy was confirmed in 7/14 cases studied.

Conclusion

Touch FISH protocol is extremely accurate in the distinction of genuine mosaicism from tissue culture artifacts namely in cases with suspicion of tetraploidy and can be used to confirm maternal cell contamination in cases with sex discrepancy between karyotype and MLPA.

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Authors and Affiliations

  1. Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319, Porto, Portugal

    Sofia Dória, Vera Lima, Berta Carvalho, Maria Lina Moreira, Alberto Barros & Filipa Carvalho

  2. UMIB, Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal

    Mário Sousa

Authors
  1. Sofia Dória
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  2. Vera Lima
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  3. Berta Carvalho
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  4. Maria Lina Moreira
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  5. Mário Sousa
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  6. Alberto Barros
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  7. Filipa Carvalho
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Correspondence to Sofia Dória.

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Capsule

Touch FISH as an effective approach for the study of pregnancy losses with maternal cell contamination or with mosaic tetraploid cells present in the karyotype.

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Dória, S., Lima, V., Carvalho, B. et al. Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. J Assist Reprod Genet 27, 657–662 (2010). https://doi.org/10.1007/s10815-010-9460-1

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  • DOI: https://doi.org/10.1007/s10815-010-9460-1

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