Causes & Treatment

Understanding your PGS results (and what to do next)

International Fertility Group (IFG)  |  8 Feb 2024


We caught up with International Fertility Group (IFG) for the latest on understanding your Preimplantation Genetic Screening result

Their expert team offers some of the most advanced Preimplantation Genetic Screening (PGS) in the world, and their clinics also have some of the best IVF success rates thanks to this groundbreaking screening process. 

Worried about testing accuracy, interpreting your results, or planning your next steps? Let’s get in the know.

Advancements in reproductive medicine have opened new avenues for individuals to gain valuable insights into their health, heritage, and potential genetic predispositions. One such tool that has gained prominence is the Preimplantation Genetic Screening (PGS). However, interpreting PGS results can be complex, and understanding the implications is crucial for making informed decisions about your health and well−being.

In this article, we will guide you through interpreting your test outcomes, empowering you with the knowledge to make informed decisions about your health.

Whether you are just receiving your PGS results or are curious about the potential implications, we are here to demystify the complexities of assisted reproductive technologies and helpguide you through the following steps with clarity and precision.

Why future parents should consider genetic testing

PGS empowers couples with crucial insights into their genetic makeup, paving the way for informed family planning. By undergoing genetic testing, future parents can assess the risk of hereditary conditions, enabling them to make proactive decisions for the health and well−being of their offspring.

Additionally, preimplantation genetic diagnosis (PGD) provides an opportunity for early detection of potential health risks being passed down from parents, allowing for timely intervention and personalized medical care.

Armed with this information, individuals can work closely with healthcare professionals to develop targeted prevention strategies or explore alternative reproductive options, such as the IVF cycle with preimplantation genetic testing, to minimize the risks associated with certain genetic conditions.

As technology evolves, the choice to undergo such testing emerges as a cornerstone in building resilient, informed, and healthy families.

preimplantation genetic screening

When can a doctor recommend PGS?

Preimplantation Genetic Screening (PGS) emerges as a valuable tool in assisted reproductive technology, prompting doctors to consider its recommendation in specific scenarios.

Typically advised when individuals undergo in vitro fertilization (IVF), PGS helps assess the genetic integrity of mosaic embryos before implantation. Doctors may recommend PGS when there’s a history of recurrent miscarriages, advanced maternal age, or multiple failed IVF cycles, as it provides a comprehensive analysis of chromosomal abnormalities, reducing the likelihood of implanting aneuploid embryos.

Furthermore, PGS becomes crucial when parents are carriers of genetic disorders, offering a means to identify euploid embryos (23 pairs of chromosomes) for transfer. By pinpointing chromosomal abnormalities in the blastocyst stage, PGS testing contributes to higher success rates in IVF and minimizes the risk of miscarriage.

In essence, a doctor might recommend PGS as a strategic step to enhance the chances of a healthy pregnancy, tailoring the approach to the unique circumstances of each aspiring parent.

How does PGS work?

Step 1: Embryo development and cell extraction

The process of Preimplantation Genetic Screening (PGS) begins with IVF. As the resulting embryos reach a specific developmental stage, typically around day five or six, a few cells are extracted for embryo biopsy.

Step 2: Genetic material isolation

Advanced laboratory techniques isolate the genetic material within several cells once they are obtained. It involves precision to ensure the embryo accurately represents the number of chromosomes.

Step 3: Genetic analysis using next−generation sequencing

Preimplantation Genetic Screening relies on cutting−edge technologies such as next−generation sequencing to scrutinize the embryos’ chromosomal content. This high−resolution analysis allows for numerical and structural abnormalities identification, providing a comprehensive overview of the genetic health before transferring embryos.

Step 4: Selection of genetically normal embryos

Armed with genetic insights, clinicians and prospective parents can make informed decisions about which IVF embryos to implant. This strategic selection significantly enhances the likelihood of a successful pregnancy while minimizing the risk of abnormal embryos leading to genetic diseases or miscarriage.

Understanding PGT−A (PGS) test results

PGS testing accuracy

Preimplantation Genetic Testing for Aneuploidy (PGT−A) allows for pin-point accuracy, providing a detailed analysis of the abnormal number of chromosomes.

Utilizing advanced technologies like next−generation sequencing, PGT−A achieves high precision in identifying numerical and structural abnormalities, such as Down syndrome (trisomy 21) or Turner syndrome (monosomy X).

This accuracy empowers you and your medical team with valuable insights into embryo development, sex chromosomes, and genetic health, facilitating informed decisions during the IVF process. 

PGS success rates

PGS success rates depend on multiple factors, including female age, the quality of the embryos, and the medical team’s expertise. 

Nevertheless, PGT−A significantly enhances the chances of a successful pregnancy by selectively transferring chromosomally normal IVF embryos. Lowering the risk of miscarriage, PGT−A contributes to higher live birth rates, making it an instrumental tool for couples navigating IVF treatment.

Risks of PGS testing

While generally safe, PGS testing is not entirely without risks. The embryo biopsy process, where a small number of cells are extracted from the embryo for analysis, carries a minimal risk of damage.

Chat with your fertility doctor to weigh the potential benefits against these minimal risks. Additionally, the nuanced nature of testing implies the possibility of false positives or negatives, emphasizing the importance of professional interpretation and counseling for a comprehensive understanding of your results.

pgs testing accuracy

What to do after you receive your Preimplantation Genetic Screening result

Receiving Preimplantation Genetic Testing for Aneuploidy (PGT−A) results marks a pivotal moment on the fertility care journey, and needs thoughtful consideration and a clear plan.

Firstly, schedule a consultation with your reproductive specialist to thoroughly discuss the results. Understand the implications of the findings, including any potential risks or uncertainties. Engage with this knowledge in open and informed conversations with your healthcare team about the next steps.

If your results show euploid embryos, you can confidently proceed with your embryo transfer. If aneuploid embryos are detected, chat with your healthcare provider to explore other reproductive alternatives – think fresh IVF cycles, using donor eggs or sperm, adoption, or surrogacy.

The bottom line

Understanding your Preimplantation Genetic Screening test results is crucial in your fertility journey. These results provide valuable information about the chromosomal status of embryos, guiding important decisions regarding embryo selection and transfer. Selecting an IVF clinic with a proven track record in trophectoderm biopsy and genetic testing ensures you receive expert guidance and comprehensive support.

Moreover, emotional support is paramount during this phase, and seeking genetic counseling or support groups can provide invaluable assistance. Ultimately, your healthcare team is your ally in navigating the complexities of PGT−A results, guiding you toward a well−informed and emotionally supported decision−making process on building a healthy family.

Looking into incorporating PGS into your fertility journey, or just looking for a second opinion on your Preimplantation Genetic Screening result? Connect with IFG for world-leading education, and to chat through your options.

Want to hear more from IFG? Read this next: Mitochondrial donation treatment

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