Preimplantation Genetic Testing (PGT) and IVF

Preimplantation Genetic Testing (PGT) is one of the most invasive techniques applied to test oocyte/embryo genetic content in In Vitro Fertilization (IVF) programs. Embryo biopsy and subsequent molecular analysis are required to detect with high precision the affected embryos in case of inherited monogenic diseases (PGT-M) or in case of numerical/structural chromosomal defects (PGT-A, PGT-SR).

PGT in IVF cycles leads to significantly reduced chance of pregnancy termination due to genetic disorders and reduced time to achieve a healthy live birth when compared to IVF cycles without any embryo testing. Despite the importance of PGT in IVF programs strict criteria should be implemented to select patients who can effectively benefit from this method.

References

  1. Gardner RL, Edwards RG. Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature, 1968; 218: 346-349.
  2. Saiki RK, et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science, 1985; 230: 1.350-1.354.
  3. Li HH, et al. Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature, 1988; 335: 414-417.
  4. Handyside AH, et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 1990; 344: 768-770.
  5. Wells D, et al. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res, 1999; 27: 1.214-1.218.
  6. Fiorentino F., et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril, 2014; 101: 1.375-1.382.
  7. Handyside AH. 24-chromosome copy number analysis: a comparison of available technologies. Fertil Steril, 2013; 100: 595-602.
  8. Scott RT Jr, 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: 624-630.
  9. Liu W, et al. Non-invasive pre-implantation aneuploidy screening and diagnosis of beta thalassemia IVSII654 mutation using spent embryo culture medium. Ann Med, 2017; 49: 319-328.
  10. Vera-Rodriguez M, et al. Origin and composition of cell-free DNA in spent medium from human embryo culture during preimplantation development. Hum Reprod, 2018; 33: 745-756.
  11. Hammond ER, Shelling AN, Cree LM. Nuclear and mitochondrial DNA in blastocoele fluid and embryo culture medium: evidence and potential clinical use. Hum Reprod, 2016; 31: 1.653-1.661.
  12. De Rycke M, et al. ESHRE PGD Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Hum Reprod, 2017; 32: 1.974-1.994.
  13. Dahdouh EM, Balayla J, Garcia-Velasco JA. Comprehensive chromosome screening improves embryo selection: a meta-analysis. Fertil Steril, 2015; 104: 1.503-1.512.
  14. Munne S, et al. Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril, 2017; 108: 62-71 e8.
  15. Munne S, Wells D. Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing. Fertil Steril, 2017; 107: 1.085-1.091.
  16. Verpoest W, et al. Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial. Hum Reprod, 2018; 33: 1.767-1.776.
  17. Practise Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril, 2018; 109: 429-436.

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