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Review of 10 years of preimplantation genetic diagnosis in South Africa: implications for a low-to-middle-income country

  • Assisted Reproduction Technologies
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Abstract

Purpose

To evaluate the preimplantation genetic diagnosis (PGD) service, for the period of January 2006 to December 2016, through a South African academic and diagnostic Human Genetics Unit, and to assess the outcomes and cost of PGD.

Methods

A retrospective review of PGD files available at the Human Genetics Unit was performed. Data was collected from genetic counseling, fertility, and PGD-specific records.

Results

Amongst the 22 couples who had PGD, 42 in vitro fertilisation cycles were completed with 228 embryos biopsied and included in the analysis. Most (59%) of the conditions for which PGD was requested were autosomal recessive. Of the biopsied embryos, 71/228 (31.1%) were suitable for transfer and 41/71 (57.7%) were transferred. Of these, 14/41 (34.0%) successfully implanted and 11/14 (78.6%) resulted in a liveborn infant. The clinical pregnancy rate per embryo transfer was 29.3%. Overall, 10/22 (45.5%) couples had a successful cycle resulting in a liveborn infant. On average, one cycle of PGD costs USD 9525.

Conclusions

This is the first study to assess the success rates and the cost of PGD in South Africa and provides evidence for the feasibility in a low-to-middle-income country. The success rates in this sample are comparable to those achieved globally. South Africa has the infrastructure and expertise to provide PGD; the limiting factor is the lack of funding initiatives for PGD. Although the sample size was small, the findings from this study will enable genetic counselors to offer couples in South Africa evidence-based and locally accurate information regarding outcomes, success rates, and costs.

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Acknowledgements

Thanks are due to Dr. S Macaulay, Dr. J Knezovich, Prof. J Kromberg, Ms. L Frylinck, and Ms. C Hardwick for their contributions to this study.

Funding

Ms B Carzis received a Scarce Skills Scholarship from the National Research Foundation (NRF) Grant no: 100245.

Author information

Authors and Affiliations

  1. Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

    Bianca Carzis, Tasha Wainstein & Amanda Krause

  2. Division of Human Genetics, National Health Laboratory Service, Johannesburg, South Africa

    Bianca Carzis, Tasha Wainstein & Amanda Krause

  3. Vitalab Centre for Assisted Conception, Johannesburg, South Africa

    Lawrence Gobetz

Authors
  1. Bianca Carzis
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  2. Tasha Wainstein
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  3. Lawrence Gobetz
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  4. Amanda Krause
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Corresponding author

Correspondence to Bianca Carzis.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee (Human Research Ethics Committee (Medical) of the University of the Witwatersrand no. M170257 27/02/2017) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Carzis, B., Wainstein, T., Gobetz, L. et al. Review of 10 years of preimplantation genetic diagnosis in South Africa: implications for a low-to-middle-income country. J Assist Reprod Genet 36, 1909–1916 (2019). https://doi.org/10.1007/s10815-019-01537-3

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  • DOI: https://doi.org/10.1007/s10815-019-01537-3

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