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What Is Preimplantation Genetic Diagnosis (PGD) ?

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Introduction: The journey towards parenthood is an extraordinary experience filled with hope and anticipation. At our medical center, we understand the significance of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) in ensuring the birth of a healthy baby. In this article, we will explore the intricacies of PGD and PGS, their advantages in preventing genetic disorders in embryos, and how these innovative techniques contribute to successful pregnancies. Whether you are facing infertility challenges or concerned about genetic conditions, join us as we take a look at PGD and PGS to discover how they can make a difference in your journey to parenthood.

Understanding Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS)

Also known as PGD, a preimplantation genetic diagnosis makes it possible to choose your child’s gender before it is born or to check for any genetic conditions or disorders in embryos. This determination is made along with in vitro fertilization (IVF).

How PGD and PGS Are Used

Besides PGD, PGS is also used to guarantee the birth of a happy and healthy baby. PGS is short for preimplantation genetic screening. Both PGD and PGS enable medical professionals to evaluate an embryo and find out if a genetic abnormality exists.

The advantages of PGD outweigh the wait-and-see approach of pregnancy. Prior to the implementation of PGD, patients who had genetic disorders had to decide whether or not to abort a pregnancy. For instance, if a genetic disorder was discovered, the couple was faced with this type of life-changing decision.

However, both PGD and PGS make it possible for the parents to make a decision on an embryo, not an infant. Because of the use of PGD and PGS, life-threatening or serious conditions in infants can be avoided.

How the PGD Procedure Is Performed

The PGD procedure allows a patient with a genetic disorder to go through the IVF process even though the risk of an abnormality exists. When this is done, cells are taken from the embryo to see if the parent has passed on a genetic disorder. The results from this process enable medical professionals to transfer embryos that are healthy into a mother.

PGD is not only innovative but helpful as it enables scientists to assess single-gene conditions. The PGS phase permits medical specialists to enhance the evaluation by looking for various disorders besides single-gene conditions. As a result, PGS improves the chance that a couple will experience a successful pregnancy. PGS uses the same technology as PGD and is therefore also advised for older women or for women who have previously miscarried.

When PGS is employed, embryos are screened for aneuploidy, a chromosome abnormality that triggers miscarriage. Therefore, PGS enables medical professionals to screen and identify embryos that are normal chromosomally. When they are identified, they can be transferred into the mother.

PGD has been proven invaluable for couples where one or both of the partners have inherited a genetic condition. If PGD is not utilized, the possibility of transmitting a disease to a baby can be as high as 50%.

As noted, PGS enables researchers to confirm which embryos are normal and may be used for any IVF embryo. Usually, about 20% of the embryos that develop in younger women (under 35 years of age) will display abnormalities genetically. This number increases significantly to as high as 80% in women who have passed the age of 40. Fortunately, PGS can be used to prevent termination, miscarriage, or the birth of a child with a severe disability.

Picture of couple waiting for pregnancy result

Picture of couple waiting for pregnancy result

If you are interested in either testing technique — PGD or PGS — you need to undergo testing for fertility as well as undergo lab work. Patients must undergo stimulation of the ovaries as well as oocyte retrieval and in vitro fertilization. By taking this approach, medical researchers are able to create more than one embryo for testing.

The PGD Process

During the process, on day three, researchers remove one cell from each of the embryos so a biopsy can be performed. If an embryo has not reached a specified phase of development by this time, it is not used in the PGD process. Once cells are examined, the embryos are allowed to continue growing before the results are returned.

The blastocyst phase of the PGD process happens on day five. At this time, the results of the testing are confirmed. This part of the process enables the specialists to determine the transfer of embryos. Up to four blastocyst-type embryos can be transferred at one time.

When a PGD or PGS process is performed, it is crucial that you as a patient depend on the expertise of professionals in the field. Otherwise, an embryo can be harmed during a biopsy. If researchers are not experts and lack experience, a misdiagnosis can also be made. That is why you need to rely on the knowledge of consummate professionals in the field of PGD and PGS research.

Realizing a Successful Pregnancy

By leaning on the services of genetic professors and medical specialists — people who are well experienced — you can contribute to trailblazing research. You will also benefit as a patient and obtain a whole new perspective on life. Both PGD and PGS are also used to combat issues with infertility. Therefore, the whole idea behind these genetic aids is to help people have healthy and happy babies and ensure their development.

When a pregnancy is successful, you need to rely on a number of components that include the following conditions:

  • The age of the mother
  • Embryo quality
  • The ability to conceive

By employing the tools of PGS and PGD, researchers and medical professionals can substantially enhance a mother’s ability to conceive as well as give birth to a baby that is free of disease. You might say that these new tools are miracle processes. Again, it is important to work with medical specialists and researchers who are committed to pregnancy success and have your best interests at heart as a would-be parent.

What Are Your Genetic Concerns?

Are you someone who has had problems with infertility? Do you possess a certain genetic condition that you do not want to pass on to your baby? Are you interested in pre-determining the sex of your child before it is born? Any of these questions can be answered with the help of PGD and PGS tools. To proceed with this journey, contact a medical center that is fully committed in this area of genetic evaluation. Take advantage of today’s innovations in this type of technology.

If you are interested in PGD or advice on Fertility Treatment arrange an appointment, or speak to a consultant today.

Conclusion: Understanding the options available through preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) can provide valuable insights for couples facing genetic concerns or fertility challenges. With the help of these tools, potential parents can make informed decisions about their future children, reduce the risk of genetic diseases, and increase the chances of successful pregnancies. Seeking guidance from experienced medical professionals specializing in PGD and PGS can offer support and knowledge necessary for this important journey towards parenthood.

FAQs: Frequently Asked Questions

1. What Is Preimplantation Genetic Diagnosis (PGD)?

Preimplantation Genetic Diagnosis (PGD) is a procedure that allows the selection of an embryo based on genetic characteristics before it is implanted through in vitro fertilization (IVF). It helps in identifying genetic conditions or disorders in embryos, and even choose the gender of the child.

2. How Is PGD Performed?

The PGD procedure involves taking cells from the embryo to determine if a genetic disorder has been passed on by the parent. This allows medical professionals to transfer healthy embryos into the mother, reducing the risk of passing on genetic disorders to the baby.

3. What Is Preimplantation Genetic Screening (PGS) and How Does It Differ from PGD?

Preimplantation Genetic Screening (PGS) is used to assess embryos for various genetic and chromosomal disorders, while PGD focuses on single-gene conditions. Both PGS and PGD are used to select healthy embryos for transfer, minimizing the risk of genetic abnormalities or serious conditions in babies.

4. Why Should One Consider PGD or PGS Testing?

PGD and PGS testing can help identify genetic conditions, reduce the risk of passing on diseases to the baby, prevent miscarriages, and increase the chances of having a successful pregnancy, especially for older women or those who have experienced previous miscarriages.

5. Who Should Undergo PGD or PGS Testing?

Individuals facing infertility issues, those with genetic conditions they do not want to pass on to their child, or those interested in selecting the gender of their child before birth can consider PGD or PGS testing. It is recommended to consult with a medical center experienced in genetic evaluation to explore these options.

  • Published on : Wednesday October 3, 2018
  • Last updated : Saturday June 29, 2024
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About the author

Michelle Tan is an IVF Consultant with 12 years of experience in fertility consulting. Having personally undergone IVF and surrogacy, she brings firsthand insight and empathy to her work. Based in Singapore, Michelle frequently travels to clinics in Bangkok, Phnom Penh, and Bishkek, sharing her expertise and supporting patients on their fertility journeys.