Preimplantation Diagnosis


Preimplantation diagnosis is testing for a causative gene before pregnancy, allowing the preselection of unaffected embryos before implantation into the uterus. It has currently become an alternative to prenatal diagnosis, providing an option for at‐risk couples to have unaffected children of their own without facing the risk of a pregnancy termination after prenatal diagnosis. Preimplantation diagnosis is also extended to late‐onset common disorders with genetic predisposition, such as cancer and heart disease, for which no preclinical diagnosis and effective preventive management exists. The other nontraditional application of preimplantation diagnosis is preimplantation HLA (human leukocyte antigen) typing to improve the access to the HLA‐identical stem cell transplantation, and this will contribute to the development of the cellular therapy for genetic and acquired disorders. However, the major current application of preimplantation genetic testing is detection and avoidance of aneuploid embryos, based on the currently used next‐generation technologies for 24‐chromosome aneuploidy testing, as the practical means in assisted reproduction technology (ART) to improve the in vitro fertilisation (IVF) effectiveness and general standards of ART.

Key Concepts

  • PGD is no longer a research tool, but the established procedure in the genetic practices and ART.
  • PGD not only avoids the birth of affected offspring but, most importantly, also ensures an unaffected pregnancy from the onset.
  • Indications for PGD have currently been extended from the traditional ones, which are similar to prenatal diagnosis, to those that are not acceptable for prenatal diagnosis, such as late‐onset common disorders or identification of HLA match for stem cell transplantation.
  • The majority of PGD is still performed for aneuploidy testing, as a tool to improve the efficiency of IVF.
  • One of the most recent changes in PGD procedure in the last few years is shifting from blastomere biopsy to blastocyst sampling and vitrification, followed by the frozen transfer of tested embryos.
  • The other important development in PGD is a shift of genetic testing from FISH testing for a few chromosomes most commonly involved in trisomies to the next‐generation technologies for 24‐chromosome aneuploidy testing.
  • The number of different genetic conditions tested by PGD at the present time is over 400 and can be done not only for inherited conditions but also for those determined by de novo mutations.
  • PGD for single‐gene disorders became extremely accurate and reliable, with as high as 99.5% accuracy in our PGD experience, which is the world's largest PGD series.
  • The shift of PGD for aneuploidies from FISH to NGS‐based testing has further improved the pregnancy and implantation rates, leading also to a considerable reduction of spontaneous abortions.
  • PGD is already moving towards the universal approaches, combining the testing for single‐gene and chromosomal disorders in a single test.

Keywords: PGD; embryo biopsy; polar body removal; single‐cell PCR analysis; next‐generation sequencing for 24‐chromosome aneuploidy testing, Mendelian disorders; late‐onset common disorders with genetic predisposition, chromosomal aneuploidies, translocations; preimplantation HLA typing


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Further Reading

Chang J, Boulet SL, Jeng G, Flowers L and Kissin DM (2016) Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the Unites States Assisted Reproductive Technology Surveillance Data, 2011–2012. Fertility and Sterility 105: 394–400.

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Gianaroli L, Magli MC and Ferraretti A (2004) The beneficial effects of PGD for aneuploidy support extensive clinical application. Reproductive BioMedicine Online 10: 633–640.

Kuliev A and Rechitsky S (2011) Polar body‐based preimplantation genetic diagnosis for Mendelian disorders. Molecular Human Reproduction 17: 275–285.

Kuliev A, Pomerantseva K, Packalchuk T, Verlinsky O and Rechitsky S (2012) PGD for inherited cardiac diseases. Reproductive BioMedicine Online 24: 443–453.

Martin J, Asan, Yi Y, et al (2015) Comprehensive carrier genetic test using next‐generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology. Fertility and Sterility 104: 1286–1293.

Meldrum DR, Su HI, Katz‐Jaffe MG and Schoolcraft WB (2016) Preimplantation genetic screening 2.0: an evolving and promising technique. Fertility and Sterility 106: 64–65.

Munné S, Grifo J and Wells D (2016) Mosaicism: “survival of the fittest” versus “no embryo left behind”. Fertility and Sterility 105: 1146–1499.

Simpson JL, Kuliev A and Rechitsky S (2015) Improving assisted reproductive technology pregnancy rates: excluding aneuploid and interrogating euploid embryos. Fertility and Sterility 104 (3): 557–558.

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Kuliev, Anver, and Rechitsky, Svetlana(Nov 2016) Preimplantation Diagnosis. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005570.pub3]