Preimplantation Genetic Diagnosis (PGD) & Preimplantation Genetic Testing (PGT)
At Eva IVF & Women’s Centre, we understand that genetic disorders and chromosomal abnormalities can impact fertility and pregnancy outcomes. Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Testing (PGT) are advanced techniques that help couples conceive genetically healthy babies by screening embryos before implantation.
This guide is specifically for couples considering PGD/PGT as part of their fertility treatment. We’ll walk you through the process, who needs it, benefits, and success rates to help you make an informed decision.
Preimplantation Genetic Diagnosis (PGD) – Detecting Genetic Disorders Before Pregnancy
What is PGD?
Preimplantation Genetic Diagnosis (PGD) is an advanced genetic screening technique used in IVF to identify embryos carrying specific inherited genetic disorders before implantation. This ensures that only healthy embryos free from the disease-causing gene mutation are selected for transfer.
Who Should Consider PGD?
✔ Couples with a family history of inherited genetic diseases (e.g., Cystic Fibrosis, Thalassemia, Sickle Cell Anemia)
✔ Parents who are carriers of a genetic mutation and want to prevent passing it to their child
✔ Couples with a history of having children affected by genetic disorders
✔ Parents looking to avoid sex-linked genetic diseases (e.g., Hemophilia, Duchenne Muscular Dystrophy)
✔ Couples needing HLA matching (for stem cell treatment in existing sick children)
How Does PGD Work? (Step-by-Step Process)
1. IVF Treatment
2. Embryo Development
3. Embryo Biopsy
4. Genetic Analysis
5. Healthy Embryo Transfer
6. Pregnancy Test
Benefits of PGD
🌟 Reduces the Risk of Passing Genetic Diseases to Children
🌟 Ensures a Healthy Pregnancy with Genetically Normal Embryos
🌟 Improves IVF Success Rates by Selecting the Best Embryos
🌟 Eliminates the Need for Pregnancy Termination Due to Genetic Disorders
💡 PGD is recommended for couples who are carriers of specific genetic disorders and want to prevent them from affecting their child.
Preimplantation Genetic Testing (PGT) – Screening for Chromosomal Abnormalities
What is PGT?
Preimplantation Genetic Testing (PGT) is a procedure that examines the overall chromosome structure of embryos created during IVF to detect abnormalities such as missing or extra chromosomes (aneuploidy), which can lead to miscarriages or failed implantation.
Who Should Consider PGT?
✔ Women Over 35 Trying to Conceive (Higher risk of chromosomal abnormalities like Down Syndrome)
✔ Couples with a History of Recurrent Miscarriages (Due to chromosomal defects)
✔ Couples with Multiple Failed IVF Cycles (To improve success rates)
✔ Couples with a Family History of Chromosomal Disorders
✔ Parents Wanting to Ensure the Best-Quality Embryos for Transfer
Types of PGT
📌 PGT-A (Aneuploidy Screening)
📌 PGT-M (Monogenic Disorder Testing)
📌 PGT-SR (Structural Rearrangements Testing)
How Does PGT Work? (Step-by-Step Process)
1. IVF Treatment
2. Embryo Culture
3. Embryo Biopsy
4. Genetic Screening
5. Embryo Selection
6. Pregnancy Test
Benefits of PGT
🌟 Improves IVF Success Rates by Selecting Genetically Normal Embryos
🌟 Reduces the Risk of Miscarriages and Pregnancy Loss
🌟 Helps Women Over 35 Increase Their Chances of a Healthy Pregnancy
🌟 Minimizes the Risk of Chromosomal Disorders Like Down Syndrome
💡 PGT is ideal for couples experiencing recurrent miscarriages or failed IVF cycles and those at risk of chromosomal disorders.
Key Differences Between PGD and PGT
💡 In summary, PGD is used when there is a known inherited genetic disorder in the family, while PGT is performed to detect chromosomal abnormalities that can lead to miscarriage or failed implantation.
Step-by-Step PGD & PGT Process
1. IVF Cycle & Embryo Development
✔ Embryos develop for 5-6 days to reach the blastocyst stage, ready for testing.
2. Embryo Biopsy for Genetic Testing
✔ The embryos remain safely frozen while testing is completed.
3. Genetic Testing & Analysis
✔ PGT-A: Screens for aneuploidy (extra/missing chromosomes, e.g., Down Syndrome, Turner Syndrome).
✔ PGT-M: Detects monogenic (single-gene) disorders like Sickle Cell Anemia or Cystic Fibrosis.
✔ PGT-SR: Identifies structural chromosomal rearrangements (e.g., translocations, deletions).
4. Selecting the Best Embryos for Transfer
✔ The selected embryo is transferred into the uterus through a simple IVF procedure.
5. Pregnancy Test & Follow-Up
💡 PGD & PGT increase the chances of a healthy pregnancy by eliminating embryos with genetic abnormalities.
Success Rates of PGD & PGT
📊 How Does PGD/PGT Improve IVF Success?
✔ PGT-A (Aneuploidy Testing) improves IVF success rates by 60-70%.
✔ PGD reduces the risk of inherited genetic diseases by nearly 99%.
✔ PGT lowers miscarriage rates by selecting chromosomally normal embryos.
✔ PGT in women over 40 increases live birth rates from 20% to 60%.
💡 Genetic testing before implantation leads to higher pregnancy success and lower miscarriage risks.
Benefits of PGD & PGT – Why Choose Genetic Testing?
🌟 Prevents Genetic Disorders from Being Passed to Children
🌟 Increases IVF Success Rates by Selecting the Healthiest Embryos
🌟 Reduces the Risk of Miscarriages & Failed Pregnancies
🌟 Helps Older Women Improve Their Chances of a Healthy Pregnancy
🌟 Ensures a Safe, Healthy Start for Your Baby
💡 For couples with a history of genetic conditions or previous IVF failures, PGD & PGT provide the best chance of having a healthy child.
Pre-Treatment Preparation – How to Get Ready for PGD/PGT?
✔ Genetic Counseling: Helps understand hereditary risks and benefits of testing.
✔ Comprehensive Health Screening: Blood tests, ovarian reserve testing (AMH, FSH), semen analysis.
✔ Healthy Lifestyle: Balanced diet, reduced alcohol/caffeine, and quitting smoking improve embryo quality.
✔ Prenatal Supplements: Folic acid, CoQ10, and vitamin D support egg and sperm health.
💡 Preparing 2-3 months before IVF with genetic testing improves embryo health and pregnancy success.
Post-Treatment Care – What Happens After PGD/PGT?
✔ Monitor Pregnancy Progress with Early Ultrasounds & Blood Tests.
✔ Continue Prenatal Medications to Support Implantation.
✔ Lifestyle Modifications: Maintain a stress-free environment, eat a nutrient-rich diet, and stay active.
✔ Regular Follow-Ups: Routine screenings ensure a smooth pregnancy.
💡 With genetically tested embryos, the risk of pregnancy complications significantly decreases.