A healthy embryo surrounded by DNA strands, symbolizing hope in fertility treatment.

PGD & PGS: Unlocking the Future of Fertility – A Comprehensive Guide

Samir D’Costa in Health & Wellness November 2025 • 4 min read.

"Navigating the complex world of Preimplantation Genetic Diagnosis and Screening. Find out how they can help improve your chances of a healthy pregnancy."

For couples facing infertility or the risk of passing on inherited genetic disorders, the journey to parenthood can be fraught with anxiety and uncertainty. However, advancements in reproductive technology offer hope. Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) are two such techniques revolutionizing the landscape of fertility treatment. These procedures allow doctors to screen embryos for genetic abnormalities before implantation, increasing the chances of a successful and healthy pregnancy.

While both PGD and PGS involve testing embryos, they serve different purposes. PGD is primarily used when one or both parents are known carriers of a specific genetic disorder, such as cystic fibrosis or Huntington's disease. PGS, on the other hand, is employed to screen embryos for common chromosomal abnormalities like Down syndrome, often in cases of advanced maternal age or recurrent pregnancy loss. Understanding the nuances of each technique is crucial for couples considering these options.

This comprehensive guide aims to provide you with a clear understanding of PGD and PGS, covering everything from the underlying science to the ethical considerations and future challenges. Whether you're just beginning to explore your fertility options or seeking in-depth information about these advanced technologies, this article will serve as a valuable resource.

PGD vs. PGS: What’s the Difference and Why Does It Matter?

A healthy embryo surrounded by DNA strands, symbolizing hope in fertility treatment.

PGD and PGS are powerful tools, it's important to understand their individual roles in fertility treatment:

Preimplantation Genetic Diagnosis (PGD) is used when there's a known risk of a specific genetic disorder being passed on to the child. This could be because one or both parents are carriers of a single-gene mutation or have a chromosomal translocation. PGD aims to identify embryos affected by that specific disorder, ensuring that only healthy embryos are transferred.

Who It's For: Couples with a known risk of passing on a specific inherited genetic disorder.
What It Tests For: Specific genetic mutations or chromosomal translocations.
Goal: To prevent the transmission of a known genetic disorder to the offspring.

Preimplantation Genetic Screening (PGS), also sometimes referred to as PGD-A (where 'A' stands for aneuploidy), is a broader screening test used to identify embryos with an abnormal number of chromosomes (aneuploidy). Aneuploidy becomes more common as women age and can lead to implantation failure, miscarriage, or genetic disorders like Down syndrome. PGS helps select embryos with the correct number of chromosomes, potentially increasing implantation and live birth rates.

The Future of PGD and PGS: Personalized Fertility

PGD and PGS are constantly evolving with technological advancements. As genetic screening becomes more sophisticated and affordable, we can expect to see even more personalized approaches to fertility treatment. This includes the development of more comprehensive screening panels, improved methods for detecting mosaicism (where some cells in the embryo have a normal number of chromosomes and others do not), and potentially even gene editing techniques to correct genetic defects in embryos. While ethical considerations remain paramount, the future of PGD and PGS holds immense promise for helping couples achieve their dream of a healthy family.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1016/j.jfma.2017.08.006, Alternate LINK

Title: Preimplantation Genetic Diagnosis And Screening: Current Status And Future Challenges

Subject: General Medicine

Journal: Journal of the Formosan Medical Association

Publisher: Elsevier BV

Authors: Hsin-Fu Chen, Shee-Uan Chen, Gwo-Chin Ma, Sung-Tsang Hsieh, Horng-Der Tsai, Yu-Shih Yang, Ming Chen

Published: 2018-02-01

Everything You Need To Know

For whom is Preimplantation Genetic Diagnosis (PGD) most appropriate, and what are its limitations in screening for genetic issues?

Preimplantation Genetic Diagnosis (PGD) is employed when there is a known risk of passing on a specific genetic disorder, such as cystic fibrosis or Huntington's disease, from one or both parents to the child. It identifies embryos affected by that specific disorder, ensuring that only healthy embryos are transferred during in vitro fertilization (IVF). Thus preventing the transmission of a known genetic disorder to the offspring. It does not screen for chromosomal abnormalities unrelated to the specific disorder, and it requires prior knowledge of the genetic risks within the family.

What is Preimplantation Genetic Screening (PGS), and how does it differ from Preimplantation Genetic Diagnosis (PGD) in terms of its application and scope of screening?

Preimplantation Genetic Screening (PGS), sometimes referred to as PGD-A, is a broader screening test used to identify embryos with an abnormal number of chromosomes (aneuploidy). Aneuploidy becomes more common as women age and can lead to implantation failure, miscarriage, or genetic disorders like Down syndrome. PGS helps select embryos with the correct number of chromosomes, potentially increasing implantation and live birth rates. This procedure is typically used in cases of advanced maternal age or recurrent pregnancy loss, and is not designed to detect specific genetic mutations like PGD.

Beyond current capabilities, what advancements are anticipated in the future of PGD and PGS, and how might these changes impact personalized fertility treatments?

The future of PGD and PGS involves more comprehensive screening panels, improved methods for detecting mosaicism (where some cells in the embryo have a normal number of chromosomes and others do not), and potentially even gene editing techniques to correct genetic defects in embryos. This may lead to more personalized approaches to fertility treatment.

In what specific scenarios would a fertility specialist recommend Preimplantation Genetic Diagnosis (PGD) over Preimplantation Genetic Screening (PGS), and what are the key objectives of each approach?

PGD is primarily used when one or both parents are known carriers of a specific genetic disorder, such as cystic fibrosis or Huntington's disease. PGS, on the other hand, is employed to screen embryos for common chromosomal abnormalities like Down syndrome, often in cases of advanced maternal age or recurrent pregnancy loss. PGD aims to prevent the transmission of a known genetic disorder, while PGS focuses on improving implantation and live birth rates by selecting embryos with the correct number of chromosomes.

What are the key differences between PGD and PGS when it comes to testing and intended use?

PGD is used when there's a known risk of a specific genetic disorder being passed on to the child. This could be because one or both parents are carriers of a single-gene mutation or have a chromosomal translocation. PGS is a broader screening test used to identify embryos with an abnormal number of chromosomes (aneuploidy). PGD tests for specific genetic mutations or chromosomal translocations whereas PGS tests for an abnormal number of chromosomes.