Pre Implantation Genetic Testing Screening
A confident start to your journey towards a healthy family
Starting a family is a journey of hope. For some, this path comes with concerns about genetic conditions or recurring pregnancy challenges. Preimplantation Genetic Testing (PGT) is a state-of-the-art procedure performed during an In-Vitro Fertilisation (IVF) cycle. It involves testing embryos for specific genetic or chromosomal abnormalities before they are transferred to the uterus. This powerful tool empowers you with crucial information, helping fertility specialists select the healthiest embryo for transfer and giving you the best possible start.
What is Preimplantation Genetic Testing (PGT)?
Think of PGT as the very first health check for your future baby. It’s a special test we can do on embryos made during your IVF cycle, before one is transferred to your womb.By testing just a few cells from an embryo, we can check its genetic health. This helps us choose the embryo that has the best chance of developing into a healthy baby and lowers the risk of a miscarriage.
For families who have a health condition that can be passed down, PGT is a powerful tool. It helps us find an embryo that does not have that specific condition. This gives you the best chance to have a healthy child and can stop the health concern from being passed to future generations of your family.
Types of Preimplantation Genetic Testing
PGT is not a one-size-fits-all test. Different types of PGT are available, tailored to specific needs. The three main types are:
- PGT-A (Aneuploidy Testing): This is the most common type of PGT. It checks if an embryo has the correct number of chromosomes. Having too few or too many chromosomes (a condition called aneuploidy) is a major cause of implantation failure and miscarriage. Conditions like Down syndrome (Trisomy 21) are caused by an extra chromosome. PGT-A helps identify embryos with the normal number of 46 chromosomes.
- PGT-M (Monogenic/Single-Gene Disorder Testing): This test is for individuals or couples who are known carriers of a specific inherited genetic disease. PGT-M screens embryos for that single-gene disorder, such as Cystic Fibrosis, Thalassemia, Sickle Cell Anaemia, or Huntington’s disease. This dramatically reduces the risk of passing the condition on to your child.
- PGT-SR (Structural Rearrangement Testing): Some individuals have a structural rearrangement in their chromosomes (like a translocation or inversion). While they may be healthy themselves, they are at a higher risk of producing embryos with an incorrect amount of genetic material. PGT-SR identifies embryos that are chromosomally balanced, increasing the chance of a healthy pregnancy.
Who Should Consider PGT?
Fertility specialists may recommend PGT if you:
- Are of advanced maternal age (typically over 35).
- Have experienced recurrent miscarriages.
- Have had several failed IVF cycles.
- Are a known carrier of a single-gene disorder (for PGT-M).
- Have a family history of a genetic condition.
- Are a known carrier of a chromosomal structural rearrangement (for PGT-SR).
- Wish to reduce the risk of a multiple pregnancy by confidently transferring a single, healthy embryo.
How Does PGT Work? – Step-by-Step Procedure
The PGT process is seamlessly integrated into an IVF journey. Here’s how it works:
- IVF Cycle: A standard IVF cycle is performed where eggs are retrieved from the mother and fertilised with sperm in an advanced laboratory.
- Embryo Development: The resulting embryos are carefully monitored as they grow for 5 to 6 days to the blastocyst stage.
- Embryo Biopsy: A highly skilled embryologist performs a delicate biopsy, removing a very small sample of 5-10 cells from the part of the embryo that will form the placenta (the trophectoderm). This procedure is extremely safe and does not harm the embryo.
- Genetic Analysis: The biopsied cells are sent to a specialised genetics laboratory for testing using advanced screening technology.
- Embryo Freezing: While awaiting the test results, the embryos are safely frozen using a state-of-the-art technique called vitrification.
- Results and Selection: Once the results are available, you will have a detailed consultation with your specialist. They will help you select the chromosomally normal, healthy embryo for transfer.
- Frozen Embryo Transfer (FET): In a subsequent cycle, the selected embryo is thawed and carefully transferred into the uterus.
Benefits of Preimplantation Genetic Testing
Choosing PGT can offer significant advantages and peace of mind:
- Increased Chance of Implantation: Transferring a genetically normal embryo can increase its chances of successfully implanting in the uterine wall.
- Reduced Risk of Miscarriage: Since chromosomal abnormalities are a leading cause of early pregnancy loss, PGT lowers this risk.
- Lower Risk of Genetic Disorders: PGT significantly reduces the chance of having a child with the specific condition being tested for.
- Confidence in Single Embryo Transfer (SET): By identifying the healthiest embryo, PGT allows for the confident transfer of a single embryo, reducing the health risks associated with twin or triplet pregnancies.
- Fewer IVF Cycles: By making each transfer more effective, PGT can potentially reduce the number of IVF cycles needed to achieve pregnancy, saving time, money, and emotional strain.
Risks and Limitations
It’s important to understand the limitations of PGT:
- No Guarantee: While PGT improves success rates, it does not guarantee a successful pregnancy or live birth.
- Potential for No Transferable Embryos: In some cases, testing may reveal that none of the embryos are genetically normal. While this news can be difficult, it prevents the emotional and physical toll of transferring an embryo that would not have resulted in a healthy baby.
- Inconclusive Results: Rarely, a result may come back as inconclusive or show “mosaicism” (a mix of normal and abnormal cells), requiring a detailed discussion with medical experts.
Preparing for PGT
The journey with PGT begins with a thorough consultation. Preparation typically involves:
- Fertility Evaluation: A comprehensive evaluation will be conducted to ensure IVF is the right path for you.
- Emotional Support: The process can be emotionally demanding. Support and guidance are available at every step.
What to Expect After PGT
After the testing is complete, the medical team will guide you through the next steps:
- Reviewing Results: Your doctor will explain the results of each embryo in detail, answering all your questions.
- Making a Plan: Together, a plan will be made to decide on the best embryo to transfer and schedule the Frozen Embryo Transfer (FET) procedure.
- The Transfer and Beyond: Following the transfer, there is a two-week waiting period before a pregnancy test. If the cycle is successful, the pregnancy will be monitored just like any other, with the added recommendation for confirmatory prenatal screening.
Take the Next Step with Confidence
Preimplantation Genetic Testing is a powerful option that can provide clarity and confidence on your path to parenthood. Speaking with a fertility specialist can help you learn if PGT is the right choice for you.
HAVE MORE QUERIES ABOUT Genetic Program AND ITS TREATMENTS? ASK OUR EXPERTS
Contact UsFAQ's
What is genetic testing?
Genetic testing is a medical diagnostic procedure that examines a person's genes, chromosomes, or proteins to identify any changes or mutations. It helps assess risks for genetic conditions or the likelihood of passing them to future generations, playing a vital role in reproductive medicine and fertility planning.
What is PGT?
Preimplantation Genetic Testing (PGT) is performed on embryos created via IVF. It involves testing a few cells from the embryo to detect genetic abnormalities, allowing fertility specialists to select the healthiest embryos for transfer, increasing pregnancy success and reducing the risk of genetic diseases.
Who should get the genetic testing done?
Genetic testing is recommended for couples with a family history of genetic disorders, recurrent miscarriages, failed IVF attempts, or advanced maternal age. It helps in identifying potential genetic risks and supports personalized fertility treatment planning.
What is PGT-A (Preimplantation Genetic Testing for Aneuploidy)?
PGT-A screens embryos for chromosomal abnormalities like aneuploidy. It helps identify embryos with the correct number of chromosomes, improving implantation chances and reducing miscarriage risks or birth defects.
What is PGT-M (Preimplantation Genetic Testing for Monogenic Disorders)?
PGT-M identifies specific gene mutations or single-gene disorders in embryos. It's recommended for couples who are carriers of inherited disorders like autosomal recessive or X-linked conditions. This testing helps select embryos free from those genetic diseases.
What is PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements)?
PGT-SR detects structural changes in chromosomes such as translocations or inversions. It identifies embryos with normal structure, reducing the risk of implantation failure, miscarriage, or genetic conditions.
Does PGT (Preimplantation Genetic Test) guarantee a healthy baby?
PGT significantly lowers the risk of genetic conditions like Thalassemia or Down Syndrome by selecting the healthiest embryos. However, it does not guarantee a healthy baby, and regular prenatal care during pregnancy is still necessary.
Are there any risks associated with PGT (Preimplantation Genetic Test)?
PGT is generally very safe. The main risk is a less than 1% chance of embryo damage during biopsy. There's also a small chance the test may yield no results or that no normal embryos are found.
What is the success rate of PGT (Preimplantation Genetic Test)?
PGT increases the success rate of pregnancy by selecting chromosomally normal embryos, enhancing implantation and lowering miscarriage risk. This helps reduce the number of IVF cycles needed for a healthy pregnancy.
Is PGT (Preimplantation Genetic Test) safe for embryos?
Yes, PGT is considered very safe. A few cells are taken from the embryo's outer layer (future placenta), not the part that becomes the baby. It’s been widely used for years without affecting child health.
