Preimplantation Genetic Diagnosis
(PGD) in IVF

The selection of ‘normal or Euploid’ embryo(s) following
genetic testing before a transfer procedure.

What is Preimplantation Genetic Diagnosis (PGD) in IVF?

Preimplantation genetic diagnosis (PGD) is an advanced embryo genetic testing technique used during an IVF cycle to screen embryos for genetic disorders before implantation. This process helps select only genetically healthy embryos, reducing the risk of passing on inherited diseases to the next generation.

PGD genetic testing is a crucial part of in vitro fertilisation for couples who have a known inherited disease or chromosomal abnormalities in their family. By conducting preimplantation screening, specialists can improve the chances of a successful pregnancy and a healthy baby.

How Does PGD Work During In Vitro Fertilization?

Preimplantation genetic diagnosis for single-gene disorders and chromosomal abnormalities involves a step-by-step process:

  1. PGD IVF Cycle Initiation: The IVF cycle begins with ovarian stimulation to retrieve multiple eggs.
  2. Fertilisation: Eggs are fertilised in the lab to create embryos.
  3. Embryo Biopsy: A few cells are taken from each embryo at the blastocyst stage.
  4. Genetic Screening of Embryos: The cells are tested for genetic mutations and chromosomal abnormalities.
  5. Selection of Healthy Embryos: Only embryos free from the targeted genetic disorder are selected.
  6. Embryo Transfer: A healthy embryo is transferred into the uterus for implantation.
  7. Freezing of Additional Embryos: Viable embryos that are not used can be frozen for future use.

This process ensures that only embryos without genetic diseases are implanted, improving the success rate of IVF and reducing the likelihood of miscarriage.

Benefits of Preimplantation Genetic Diagnosis in IVF

  • Reduces Risk of Genetic Disorders: PGD screening helps identify genetic abnormalities, ensuring only healthy embryos are implanted.
  • Increases IVF Success Rates: Genetic testing improves the chances of a successful pregnancy and live birth.
  • Minimises the Risk of Miscarriage: By selecting genetically viable embryos, PGD lowers the likelihood of miscarriage caused by chromosomal abnormalities.

Provides Reproductive Assurance: Couples with a history of genetic diseases can have children without passing on inherited conditions.

PGD Genetic Testing for Single-Gene Disorders

Preimplantation testing for single-gene disorders is a powerful tool for detecting conditions caused by mutations in a single gene. These include:

  • Thalassemia
  • Sickle Cell Disease
  • Cystic Fibrosis
  • Huntington’s Disease
  • Muscular Dystrophy
  • Inherited Cancer Predispositions
  • Polycystic Kidney Disease
  • Hemophilia
  • Congenital Adrenal Hyperplasia
  • Fragile-X Syndrome

Preimplantation Testing for Chromosomal Rearrangements (PGT-SR)

  • Some couples may have chromosomal rearrangements that can affect fertility and pregnancy outcomes. A specialised form of genetic testing for IVF embryos, called PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements), helps detect these issues. Common chromosomal rearrangements include:
    • Reciprocal Translocations
    • Robertsonian Translocations
    • Inversions

    Genetic screening of embryos using PGT-SR vastly improves the chances of a successful pregnancy for individuals carrying chromosomal abnormalities.

Risks Associated with PGD During IVF

Although PGD offers significant advantages, there are some risks:

  • Not All Embryos Survive the Biopsy Process: Some embryos may not develop to the biopsy stage, reducing the number available for transfer.
  • No Genetically Suitable Embryos: In some cases, none of the tested embryos may be free from the targeted genetic disorder.
  • Small Risk of Misdiagnosis: Although rare, there is a possibility of misdiagnosing an embryo.
  • Ethical and Emotional Considerations: The process of selecting embryos based on genetic makeup may be emotionally challenging for some couples.

Your genetic counselor will discuss all potential risks and guide you through the process to ensure informed decision-making.

Success Rates of PGD in Preventing Genetic Disorders

  • The success of PGD in preventing genetic conditions depends on multiple factors, including the type of disorder being tested and the quality of the embryos. Studies indicate:
    • Over 90% Accuracy: PGD is highly accurate in detecting genetic abnormalities.
    • Improved Live Birth Rates: The use of PGD increases the likelihood of a successful pregnancy.
    • Significantly Reduced Risk of Inherited Diseases: Couples with known genetic conditions can have children without passing on the disorder.

Cost of Preimplantation Genetic Testing for Embryos

The cost of preimplantation genetic testing varies based on factors such as the type of genetic screening required and the number of embryos tested. Key considerations include:

  • Comprehensive PGD Panel Costs: Testing for multiple conditions can increase the overall expense.
  • Additional IVF Costs: PGD is an additional procedure within the IVF cycle.
  • Insurance Coverage: Some health insurance providers may cover preimplantation genetic diagnosis if medically necessary.

To determine if insurance covers preimplantation genetic testing, consult with your provider.

FAQs

  1. What is PGD in IVF, and how does it work?

PGD is a genetic screening method used in IVF to identify embryos free from inherited genetic conditions before implantation.

  1. How does PGD help prevent genetic disorders in embryos?

PGD tests for specific genetic mutations, ensuring that only healthy embryos are implanted, significantly reducing the risk of passing on inherited diseases.

  1. What is the success rate of PGD in preventing genetic disorders?

PGD has a success rate of over 90% in correctly identifying genetic abnormalities, increasing the chances of a healthy pregnancy.

  1. Is preimplantation genetic testing covered by insurance?

Coverage depends on the insurer and medical necessity. Some insurance providers cover PGD for couples with a known risk of genetic disorders.

  1. What are the risks associated with PGD during IVF?

Potential risks include a reduced number of viable embryos, a small chance of misdiagnosis, and emotional considerations.

  1. How accurate is preimplantation genetic diagnosis in detecting genetic conditions?

PGD is highly accurate, with an error rate of less than 1% when conducted correctly.

  1. What is the difference between PGD and preimplantation genetic screening (PGS)?

PGD focuses on specific genetic disorders, while preimplantation genetic screening (PGS) assesses overall chromosomal health.

Why Choose Us?

Here are some facts about your fertility journey with us that we’d like to share with you:

Every evaluation and treatment plan is uniquely tailored to meet your individual needs

You will have access to leading professionals, with over 35 years combined expertise, providing you with confidence and reassurance in your fertility diagnosis and subsequent treatment

Our multidisciplinary team includes specialists in fertility, urology, nutrition, counselling, genetics, endocrinology, haematology and weight management to provide a comprehensive range of support as and when you need it

We will work with you closely to understand your individual circumstances, identify any problems and agree with you, the best course of action to help make your dream a reality

We will always be honest and open about your chances of success with treatment.

Your comfort and care is always our top priority

Our focus remains entirely on you as an individual, your unique needs and your wellbeing

All investigations and treatments are provided within our new state-of-the-art clinic based in Elstree which offers a spacious environment with comfortable surroundings, to enhance your care and experience. We offer investigations and scans at our satellite locations too.

Our friendly consultant-led team is here to support you at every step throughout your fertility journey

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