Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy

ABSTRACT

Introduction: Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF – hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer.

Areas covered: PGD has followed the tremendous evolution in genetic analysis, with only a slight delay due to adaptations for diagnosis on small samples. Currently, next generation sequencing combining chromosome with single-base pair analysis is on the verge of becoming the golden standard in PGD and PGT-A. Papers highlighting the different steps in the evolution of PGD/PGT-A were selected.

Expert commentary: Different methodologies used in PGD/PGT-A with their pros and cons are discussed.

KEYWORDS:

• Preimplantation genetic diagnosis
• preimplantation genetic testing
• single-cell analysis
• human preimplantation embryo
• human blastocyst
• in vitro fertilisation
• multiplex pcr
• microarray
• next generation sequencing

Declaration of interest

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

This paper was not funded.