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Updated: Jan 22, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

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Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges

Romualdo Sciorio1, Luca Tramontano2, James Catt3

  • 1Edinburgh Assisted Conception Programme, EFREC, Royal Infirmary of Edinburgh, Edinburgh, UK.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology
|July 19, 2019
PubMed

Insights

Preimplantation genetic testing (PGT) has evolved significantly since its inception. This review clarifies preimplantation genetic diagnosis (PGD) and preimplantation genetic aneuploidy (PGT-A) and discusses current methodologies.

Area of Science:

  • Reproductive Medicine
  • Genetics
  • Embryology

Background:

  • In vitro fertilization (IVF) has resulted in over 7 million births globally since 1978.
  • Preimplantation genetic diagnosis (PGD) emerged in the late 1980s for genetic abnormality screening.
  • Preimplantation genetic screening (PGS), now PGT-A, evolved as an IVF embryo selection tool in the mid-1990s.

Purpose of the Study:

  • To differentiate between preimplantation genetic diagnosis (PGD) and preimplantation genetic aneuploidy testing (PGT-A).
  • To review current indications for embryo biopsy and genetic analysis in assisted reproductive technologies.
  • To discuss the advancements in methodologies for euploid embryo selection.

Main Methods:

  • Review of historical and current genetic analysis technologies used in PGT.
  • Discussion of embryo biopsy techniques and their impact on genetic testing.
  • Analysis of cytogenetic advancements enabling improved PGD and PGT-A.

Main Results:

  • Evolution from fluorescent in situ hybridization (FISH) to advanced cytogenetic methods.
  • Development of various technologies for identifying euploid embryos for transfer.
  • Improved efficacy of IVF cycles through targeted embryo selection.

Conclusions:

  • PGT-A aims to enhance IVF efficacy by selecting euploid embryos.
  • Advancements in biopsy and genetic analysis have refined PGD and PGT-A.
  • Understanding PGD vs. PGT-A is crucial for optimizing IVF outcomes.

Keywords:
Preimplantation genetic diagnosis (PGD)blastocyst biopsycleavage stage embryo biopsypreimplantation genetic testing for aneuploidy (PGT-A)

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