Application of Touch FISH in the Study of Mosaic Tetraploidy and Maternal Cell Contamination in Pregnancy Losses

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2010 Aug 3

PMID 20676750

Citations 4

Authors

Sofia Doria

Vera Lima

Berta Carvalho

Maria Lina Moreira

Mario Sousa

Alberto Barros

Filipa Carvalho

Affiliations

Soon will be listed here.

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.

Citing Articles

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials.

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Molecular analysis of products of conception obtained by hysteroembryoscopy from infertile couples.

Campos-Galindo I, Garcia-Herrero S, Martinez-Conejero J, Ferro J, Simon C, Rubio C J Assist Reprod Genet. 2015; 32(5):839-48.

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The combined QF-PCR and cytogenetic approach in prenatal diagnosis.

Tekcan A, Tural S, Elbistan M, Kara N, Guven D, Kocak I Mol Biol Rep. 2014; 41(11):7431-6.

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The role of morphology in combination with ploidy analysis in characterizing early gestational abortion.

Grinschgl I, Mannweiler S, Holzapfel-Bauer M, Pferschy U, Hoefler G, Guertl B Virchows Arch. 2012; 462(2):175-82.

PMID: 23262783 DOI: 10.1007/s00428-012-1350-8.

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