Journal of Assisted Reproduction and Genetics

, Volume 36, Issue 9, pp 1909–1916 | Cite as

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

  • Bianca CarzisEmail author
  • Tasha Wainstein
  • Lawrence Gobetz
  • Amanda Krause
Assisted Reproduction Technologies



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.


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.


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.


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.


Assisted reproductive techniques Human genetics Low-to-middle-income country Genetic counseling Preimplantation genetic diagnosis Reproductive techniques 



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.


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

Compliance with ethical standards

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.

Informed consent

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


  1. 1.
    Handyside AH, Kontogianni EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768–70.CrossRefGoogle Scholar
  2. 2.
    Scott RT, Upham KM, Forman EJ, et al. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100(3):624–30.CrossRefGoogle Scholar
  3. 3.
    Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, Munne S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16(11):838–45.CrossRefGoogle Scholar
  4. 4.
    Dahdouh EM, Balayla J, Audibert F, Wilson RD, Brock JA, Campagnolo C, et al. Technical update: preimplantation genetic diagnosis and screening. Obstet Gynecol Surv. 2015;70(9):557–8.CrossRefGoogle Scholar
  5. 5.
    Bayefsky MJ. Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism. Reprod Biomed Online. 2017. Accessed 10 July 2017.
  6. 6.
    Strode A, Soni S. Pre-implantation diagnosis to create ‘saviour siblings’: a critical discussion of the current and future legal frameworks in South Africa. S Afr Med J. 2012;102(1):21–4.Google Scholar
  7. 7.
    Statistics South Africa 2017. Media release: general household survey, 2016. 2017. Accessed 22 Aug 2017.
  8. 8.
    Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, et al. The ESHRE PGD consortium: 10 years of data collection. Hum Reprod Update. 2012;18(3):234–47.CrossRefGoogle Scholar
  9. 9.
    Sherbahn R. Frozen Embryo Transfer, FET cycles after IVF. 2017. Accessed 13 July 2017.
  10. 10.
    Advanced Fertility Center of Chicago. IVF success rates: in vitro fertilization statistics. 2017. Accessed 13 July 2017.
  11. 11.
    Cunningham J, Goldsmith L, Skirton H. The evidence base regarding the experiences of and attitudes to preimplantation genetic diagnosis in prospective parents. Midwifery. 2015;31(2):288–96.CrossRefGoogle Scholar
  12. 12.
    Drazba KT, Kelley MA, Hershberger PE. A qualitative inquiry of the financial concerns of couples opting to use preimplantation genetic diagnosis to prevent the transmission of known genetic disorders. J Genet Couns. 2014;23(2):202–11.CrossRefGoogle Scholar
  13. 13.
    Sherbahn R. PGD and IVF Costs - what is the cost for preimplantation genetic diagnosis - PGD and PGS, preimplantation genetic screening? 2017. Accessed 13 July 2017
  14. 14.
    Ella M. Apply for Funding. 2017. Accessed 27 July 2017.
  15. 15.
    Anderson D, Dumont S, Jacobs P, Azzaria L. The personal costs of caring for a child with a disability: a review of the literature. Public Health Rep. 2007;122(1):3–16.CrossRefGoogle Scholar
  16. 16.
    Geraedts JP, De Wert GM. Preimplantation genetic diagnosis. Clin Genet. 2009;76(4):315–25.CrossRefGoogle Scholar
  17. 17.
    Davis LB, Champion SJ, Fair SO, Baker VL, Garber AM. A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis. Fertil Steril. 2010;93(6):1793–804.CrossRefGoogle Scholar
  18. 18.
    Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ. Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2018;20:1.CrossRefGoogle Scholar
  19. 19.
    Asplin N, Wessel H, Marions L, Öhman SG. Pregnancy termination due to fetal anomaly: women’s reactions, satisfaction and experiences of care. J Midwifery. 2014;30(6):620–7.CrossRefGoogle Scholar
  20. 20.
    Statistics South Africa 2017. Media release: quarterly labour force survey – QLFS Q1:2017. Accessed 13 Nov 2017.
  21. 21.
    Pennings G, de Wert G, Shenfield F, et al. ESHRE Task Force on Ethics and Law 14: equity of access to assisted reproductive technology. Hum Reprod. 2008;23(4):772–4.CrossRefGoogle Scholar
  22. 22.
    Butler P, Khanna J. Assisted reproduction in developing countries-facing up to the issues. Prog Reprod Health Res. 2003;63:1–8.Google Scholar
  23. 23.
    Hörbst V. You cannot do IVF in Africa as in Europe’: the making of IVF in Mali and Uganda. Reprod Biomed Soc Online. 2016;1(2):108–15.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Human Genetics, School of Pathology, Faculty of Health SciencesUniversity of the WitwatersrandJohannesburgSouth Africa
  2. 2.Division of Human GeneticsNational Health Laboratory ServiceJohannesburgSouth Africa
  3. 3.Vitalab Centre for Assisted ConceptionJohannesburgSouth Africa

Personalised recommendations