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Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation

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Abstract

Fluorescence in situ hybridisation (FISH) was first applied on in vitro fertilisation (IVF) embryos for the preimplantation genetic diagnosis of sex, then chromosome translocations and later for chromosome copy number (PGS). Because of the controversy surrounding PGS diagnostically, it has been replaced by array-based approaches; however, FISH remains a powerful tool for investigating mechanisms of both post-zygotic segregation error and nuclear organisation, especially if most or all of the chromosomes in the karyotype can be analysed. The purpose of this study was to develop and apply a 24 chromosome FISH assay to investigate chromosome-specific rates of gain and loss, nuclear organisation patterns and the veracity of the original PGS result in days 5–6 human embryos. Analysis of 17 embryos by this newly developed approach gave strong signals for all chromosomes; it revealed chromosome copy number for each human chromosome per cell for each embryo and the nuclear address of the (mostly centromeric) loci probed. As all embryos were surplus to IVF requirements for both transfer and freezing (and many had an abnormal PGS indication) expected high levels of chromosome abnormalities were seen and no single nucleus displayed a normal complement; all were mosaic. Certain patterns emerged, however, namely that chromosome loss was more common than gain and apparent mitotic non-disjunction. Moreover, the centromeric probes tended preferentially to occupy the nuclear centre. Where we had a prior day 3 biopsy PGS result, it was confirmed, in part, by 24 colour FISH in most but not all cases.

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Abbreviations

Array CGH:

Array comparative genome hybridisation

CCD:

Charged coupled device

cenM-FISH:

Centromere-specific multi-colour FISH

CM-FISH:

Centromeric multiplex FISH

DAPI:

4′,6-diamidino-2-phenylindole

FISH:

Fluorescent in situ hybridisation

HCl:

Hydrochloric acid

HFEA:

Human fertilisation embryology authority

IVF:

In vitro fertilisation

NDRP:

Not discernable from a random pattern

PGS:

Preimplantation genetic screening

PBS:

Phosphate-buffered saline

SSC:

Saline sodium citrate

SE:

Satellite enumeration

SNP:

Single nucleotide polymorphism

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Acknowledgements

The authors would like to thank the entire patient cohort for their consent in providing samples for this study.

Funding

Funding for this project was provided, in part, from a BBSRC Career Development Fellowship awarded to DKG. We are also grateful to colleagues at Kreatech Diagnostics for designing the FISH probe sets and providing the probes free of charge.

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Correspondence to D. K. Griffin.

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Responsible Editor: Conly Rieder.

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Ioannou, D., Fonseka, K.G.L., Meershoek, E.J. et al. Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation. Chromosome Res 20, 447–460 (2012). https://doi.org/10.1007/s10577-012-9294-z

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  • DOI: https://doi.org/10.1007/s10577-012-9294-z

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