Exploring Assisted Reproduction: The Role of Preimplantation Genetic Diagnosis (PGD) and Screening (PGS) - Dr. Senai Aksoy

Exploring Assisted Reproduction: The Role of Preimplantation Genetic Diagnosis (PGD) and Screening (PGS)


In the dynamic field of assisted reproductive technology (ART), Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) are pivotal. Although they share similarities, their unique roles in the journey of assisted reproduction set them apart. This article delves into the transformative impact of these technologies for couples pursuing the dream of parenthood.

PGD in IVF: A Genetic Compass for Healthy Embryos PGD serves as an advanced tool for couples at risk of passing genetic disorders to their children, offering a direction towards a healthy future for their offspring.

Key Processes:
  • Embryo Sampling: A selective process where cells are gently harvested from post-IVF embryos.
  • Genetic Analysis: A detailed examination to identify specific genetic anomalies. Benefits of PGD:
  • Diagnostic Precision: Offers accurate genetic insights, ensuring peace of mind for prospective parents.
  • Disease Prevention: Acts as a preventive measure against hereditary conditions.
  • Embryo Selection: Ensures only embryos with the best genetic profiles are chosen for transfer.

PGS: Ensuring Chromosomal Health in Embryos PGS stands as a guardian, scrutinizing the chromosomal layout of embryos to prevent genetic abnormalities.

Key Processes:
  • Cell Sampling: A meticulous process where cells are extracted for chromosomal evaluation.
  • Chromosomal Analysis: An in-depth look to detect irregularities, such as trisomy 21 indicators. Benefits of PGS:
  • Comprehensive Evaluation: Provides a thorough chromosomal check for prospective embryos.
  • Increased Success Rates: Enhances the probability of a successful pregnancy.
  • Risk Mitigation: Offers reassurance of chromosomal health in newborns.
Choosing Between PGD and PGS:
  • PGD: Recommended for individuals with a history of genetic disorders.
  • PGS: Suitable for all undergoing IVF, particularly those concerned about chromosomal anomalies.
  • Techniques: PGD employs precise methods like PCR, while PGS utilizes broad-spectrum techniques like FISH.
  • Ethical Considerations: It’s important to engage in discussions regarding the ethical implications of these technologies.


Navigating the Complexities Preimplantation Genetic Testing for Aneuploidies (PGT-A), formerly PGS, represents a fusion of scientific progress and ethical debate in ART.

Embryo Biopsy: A Sensitive Procedure The delicate process of embryo biopsy in PGT-A is akin to a surgeon’s precise intervention on a fragile life form.

The Mosaic Challenge: A Genetic Complexity PGT-A addresses the complexity of genetic mosaicism, where analysis might be impeded by the unique chromosomal makeup of each cell.

Considerations for Older Patients For mature patients: PGT-A is a crucial decision, balancing the reduced embryo quantity against the desire for healthy offspring.

Younger Patients: Perspective The necessity of PGT-A for younger patients with a higher count of healthy embryos is under scrutiny, with studies indicating varying success rates.

The Marketing of PGT-A: Reality Check PGT-A’s portrayal as a success enhancer in ART requires a discerning understanding of its role as a screening tool rather than a quality improvement measure.

The Investment in PGT-A: The cost of PGT-A is significant, and couples must consider if the potential for increased IVF success is worth the investment.

In Summary: A Journey of Informed Decisions PGT-A presents a complex landscape in IVF, demanding informed decisions based on a thorough understanding of the science and ethical considerations. As ART evolves, informed decision-making remains crucial for aspiring parents and healthcare professionals.


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