What is Preimplantation Genetic Testing & Diagnosis?

by | Jul 30, 2023 | IVF

What is Preimplantation Genetic Testing?

Preimplantation Genetic Testing (PGT) is used during in vitro fertilization (IVF) to screen embryos for genetic disorders before they are implanted in the uterus. It helps identify embryos free from genetic abnormalities, increasing the chances of a successful pregnancy and reducing the risk of passing on hereditary conditions to the child.


Why is PGT Helpful?

Imagine you could spare your child from inheriting a debilitating genetic disorder or increase the chances of a healthy life. PGT enables you to do just that. By identifying genetic abnormalities early on, prospective parents can make informed decisions, ensuring the best start in life for their future offspring.

PGT significantly boosts IVF success rates by allowing the selection of healthy embryos for implantation. This process not only increases the odds of a successful pregnancy but also reduces the risk of miscarriages and the need for multiple IVF attempts.


Who are Good Candidates for PGT?

PGT can be a game-changer for couples facing various reproductive challenges. The following are scenarios where PGT might be highly beneficial:

  • History of Genetic Disorders: If either partner has a known genetic disorder or carries a genetic mutation, PGT can be instrumental in preventing the transmission of the condition to their children.
  • Recurrent Pregnancy Loss: Experiencing multiple miscarriages can be devastating. PGT can help identify chromosomally abnormal embryos, reducing the chances of implanting embryos that may lead to recurrent pregnancy loss.
  • Advanced Maternal Age: As women age, the risk of chromosomal abnormalities in embryos increases. PGT provides a way to select the healthiest embryos, improving the chances of successful pregnancies.
  • Family Balancing: Some couples wish to balance the gender distribution of their children. PGT can identify embryos of a specific gender, helping couples achieve their desired family composition.


What is Embryo PGT?

At its core, Preimplantation Genetic Testing (PGT) is a remarkable procedure that allows fertility specialists to examine the genetic makeup of embryos created through in vitro fertilization (IVF). The primary goal of PGT is to identify genetic abnormalities or chromosomal variations within the embryos before they are implanted into the mother’s womb.


Types of Preimplantation Genetic Testing:

There are three main types of PGT, each serving a unique purpose in assessing different aspects of an embryo’s genetic health:

  1. PGT-A (Aneuploidy Screening): PGT-A is primarily focused on screening for aneuploidy, which is an abnormal number of chromosomes in an embryo. Aneuploidy is a leading cause of failed implantation, miscarriages, and genetic disorders like Down syndrome. PGT-A helps identify chromosomally normal embryos for transfer, increasing the chances of a successful pregnancy.
  2. PGT-M (Monogenic/Single Gene Disorders): PGT-M is designed to detect specific single-gene disorders that may be present in the family’s genetic history. This type of testing is invaluable for couples carrying known genetic mutations, such as cystic fibrosis or sickle cell anemia, as it allows them to select embryos free from the targeted genetic condition.
  3. PGT-SR (Structural Rearrangements): PGT-SR is utilized when one or both partners have structural rearrangements in their chromosomes. These rearrangements can lead to recurrent pregnancy loss or infertility. PGT-SR identifies embryos with balanced chromosome arrangements, reducing the risk of miscarriages and promoting successful pregnancies.


How is PGT Performed?

The process of Embryo PGT is a delicate dance between cutting-edge science and the miracle of life. Let’s take a closer look at how this awe-inspiring procedure is performed:

  1. IVF: The PGT journey begins with In-Vitro Fertilization (IVF). During this phase, eggs are harvested from the mother’s ovaries and are fertilized with the father’s sperm in a controlled laboratory environment. This creates multiple embryos that will later be screened for genetic abnormalities.
  2. Embryo Culture and Biopsy: Over the next few days, these embryos are cultured and nurtured to ensure their growth and development. At a specific stage of development, usually on day five or six, a skilled embryologist performs a biopsy, delicately removing a few cells from each embryo. These cells hold the key to unraveling the genetic mysteries within.
  3. Genetic Analysis: The extracted cells are then subjected to comprehensive genetic analysis. This process involves advanced techniques like Next-Generation Sequencing (NGS) to examine the DNA of each embryo thoroughly. The data obtained helps identify chromosomal abnormalities or specific gene mutations, allowing for informed decisions in the selection process.
  4. Embryo Selection and Transfer: Once the genetic analysis is complete, the parents, with the guidance of their healthcare team, can make an informed choice regarding the embryos they wish to transfer. The selected healthy embryos are carefully implanted into the mother’s uterus, increasing the chances of a successful pregnancy.


Advantages of Preimplantation Genetic Testing:

Embryo PGT is much more than just a scientific marvel; it is a beacon of hope for families facing the daunting challenges of genetic disorders. The advantages it offers are nothing short of remarkable:

  1. Minimizing the Risk of Genetic Disorders: For parents carrying genetic mutations or at risk of passing on hereditary conditions, PGT-M provides a lifeline. By identifying healthy embryos unaffected by these conditions, the procedure significantly reduces the risk of passing on genetic disorders to future generations.
  2. Improving IVF Success Rates: PGT-A plays a crucial role in optimizing the IVF process. By selecting chromosomally normal embryos, the chances of successful implantation are significantly enhanced, leading to a higher likelihood of achieving a healthy pregnancy.
  3. Reducing the Emotional Toll: Embarking on the journey of assisted reproductive technology can be emotionally taxing for families. PGT offers a sense of control and empowerment, easing the anxiety associated with the uncertainty of conceiving a healthy baby.
  4. Ethical Considerations: Some critics have raised ethical concerns about embryo selection, fearing it might lead to eugenics or the creation of “designer babies.” However, the reality is that PGT aims to prevent suffering and improve the quality of life for children born from IVF procedures.


Risks of Preimplantation Genetic Testing:

While PGT presents numerous advantages, it is essential to acknowledge the potential risks that accompany the procedure:

  1. Invasive Nature of Embryo Biopsy: One of the primary risks of PGT lies in the embryo biopsy itself. The process involves delicately removing a few cells from the developing embryo for genetic analysis. Although skilled embryologists perform the biopsy, there is always a slight chance of damaging the embryo during this invasive procedure.
  2. False-Negative or False-Positive Results: Despite the advanced technology used in PGT, there is a small possibility of receiving inaccurate results. False-negative results may lead to the transfer of an embryo with genetic abnormalities, while false-positive results may result in the rejection of a healthy embryo. It is crucial for couples to be aware of this inherent uncertainty.
  3. Multiple Embryo Transfers: In some cases, multiple embryos may be transferred to increase the chances of pregnancy success. However, this could lead to multiple pregnancies, which carry their own set of risks, such as premature birth and low birth weight.


Success Rate of Preimplantation Genetic Testing in India:

The success rate of Preimplantation Genetic Testing in India was reported to be around 70% based on various studies and data. However, it’s essential to note that success rates can vary depending on factors such as the fertility clinic’s expertise, the specific genetic conditions being screened, and the age and health of the prospective parents.


Cost of Preimplantation Genetic Testing in India

The cost of Preimplantation Genetic Testing (PGT) in India was typically in the range of ₹1,50,000 to ₹3,25,000 on average. However, it’s essential to keep in mind that these costs can vary depending on the specific clinic, location, and the type of testing being conducted.



Q: Is PGS testing necessary for IVF?

A: While not an absolute requirement, PGS testing can be beneficial for IVF success by aiding in the selection of healthy embryos and reducing the chances of certain genetic abnormalities.

Q: How is PGT testing done?

A: Preimplantation Genetic Testing (PGT) involves analyzing cells from embryos created through IVF to assess their genetic makeup. There are two primary methods: PGT-A (PGS) assesses chromosomal abnormalities, and PGT-M (PGD) identifies specific genetic diseases.

Q: What diseases does PGT test for?

A: PGT-M (PGD) is used to detect specific genetic diseases, such as cystic fibrosis, sickle cell anemia, Huntington’s disease, and many others. This testing allows for the identification of embryos carrying these genetic conditions, enabling the selection of healthy ones for implantation.

Q: Does PGT increase the success of IVF?

A: Yes, PGT can increase the success of IVF by helping to identify embryos with normal chromosomal and genetic characteristics. By selecting healthy embryos for transfer, the chances of a successful pregnancy and a healthy baby can be significantly improved.

Q: What is the success rate of PGT IVF?

A: The success rate of PGT IVF can vary depending on several factors, including the age of the woman, the quality of the embryos, and the specific genetic conditions being tested. Generally, PGT IVF has shown higher success rates compared to traditional IVF procedures.

Q: What is the cost of PGD in India?

A: The cost of Preimplantation Genetic Diagnosis (PGD) in India may vary among clinics and depending on the number of embryos being tested. On average, PGD can cost anywhere from INR 50,000 to INR 150,000 per cycle.

Q: Is PGD legal in India?

A: Yes, PGD is legal in India. The Indian Council of Medical Research (ICMR) provides guidelines and regulations to ensure that PGD is used for legitimate medical purposes, such as preventing the transmission of serious genetic diseases to offspring. Clinics offering PGD services must adhere to these guidelines to maintain ethical and legal standards.

Q: What is the cost of PGD?

A: The cost of Preimplantation Genetic Diagnosis (PGD) can vary depending on the medical facility and the specific genetic conditions being tested. Generally, PGD can be a significant investment, but it offers valuable insights into the genetic health of embryos during IVF.

Q: Is PGT testing expensive? A: Yes, PGT testing can be considered relatively expensive due to the specialized technology and expertise required to analyze embryos’ genetic makeup. However, its potential benefits in improving IVF success and reducing the risk of genetic diseases may outweigh the costs for many individuals or couples.

Q: What are the 5 stages of IVF? A: In vitro fertilization (IVF) involves five main stages:

  1. Ovarian Stimulation: Hormones are administered to stimulate multiple egg production.
  2. Egg Retrieval: Mature eggs are retrieved from the ovaries through a minor surgical procedure.
  3. Fertilization: Eggs are fertilized with sperm in a laboratory setting.
  4. Embryo Culture: Fertilized eggs develop into embryos, monitored for several days in a controlled environment.
  5. Embryo Transfer: Healthy embryos are selected and transferred to the uterus for potential implantation and pregnancy.

Q: Is PGT testing 100% accurate?

A: While Preimplantation Genetic Testing (PGT) is highly accurate, it is not 100% foolproof. There is a small possibility of errors or mosaicism (when an embryo has a mixture of normal and abnormal cells), which can affect the accuracy of results. However, PGT remains an essential tool for identifying potential genetic issues in embryos.

Q: Is PGT necessary in IVF?

A: PGT is not an absolute requirement for IVF, but it can significantly improve the chances of success. By identifying healthy embryos and avoiding the transfer of embryos with genetic abnormalities, PGT can enhance the overall IVF process and increase the likelihood of a successful pregnancy and a healthy baby.

Q: How many embryos pass PGT testing?

A: The number of embryos that pass PGT testing can vary widely depending on factors such as the age of the woman, the quality of the embryos, and the specific genetic conditions being tested. In some cases, all embryos may pass, while in others, only a few might be deemed genetically healthy for transfer.

Q: How successful is PGT by age?

A: The success of Preimplantation Genetic Testing (PGT) can be influenced by the woman’s age. Generally, PGT tends to be more successful in younger women, as they typically produce healthier embryos with fewer genetic abnormalities. However, PGT can still offer significant benefits for older women, as it helps identify the best embryos for transfer, improving the chances of successful IVF outcomes regardless of age.


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    Dr Mona Dahiya

    Dr Mona Dahiya

    IVF Specialist & Consultant

    Dr Mona Dahiya has performed over 5,000+ IVF cycles and is considered a global expert in IVF, ICSI, IUI and male fertility treatment. She is an eminent writer on Infertility Treatment and has over 100 Publications in both International and National Journals. Dr Mona Dahiya has immensely contributed to the field of infertility through her Research and articles.

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