Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis: Lab Procedures

Are you considering starting a family, but have concerns about the risk of passing on genetic conditions to your child? As a potential parent, understanding preimplantation genetic diagnosis (PGD) and how it works can help you make informed decisions about your future. In this blog post, we will delve into the world of PGD, its lab procedures, and whether it’s the right option for you.

I. Understanding Preimplantation Genetic Diagnosis (PGD)

Preimplantation genetic diagnosis is a procedure used in conjunction with in vitro fertilization (IVF) to help identify genetic defects within embryos. This allows prospective parents to avoid passing on certain genetic disorders to their child.

PGD can be beneficial in several situations. For example, if you or your partner have a history of genetic disorders in your family, PGD can help ensure your child won't inherit these conditions. It may also be recommended for women over the age of 35 who have an increased risk of having a child with chromosomal abnormalities.

II. The Process of PGD

The process of PGD is intertwined with IVF. It starts with the stimulation of the ovaries to produce multiple eggs. These eggs are then retrieved and fertilized in a lab to create embryos.

Once the embryos have grown for about five days (blastocyst stage), a few cells are safely removed from each one. These cells are then tested for specific genetic conditions. Embryos without the targeted genetic disorders can be selected for transfer to the woman's uterus.

III. Lab Procedures for PGD

In the lab, embryos are harvested and prepared for testing around day five after fertilization when they have developed into blastocysts. A laser is used to create a small hole in the outer layer of the embryo, and a few cells are gently removed for analysis.

The lab process involves either fluorescent in situ hybridization (FISH) or comparative genomic hybridization (CGH). These tests identify abnormalities in chromosomes, such as missing or extra ones that cause disorders like Down syndrome. Other tests can detect single gene disorders such as cystic fibrosis or Huntington's disease.

IV. Pros and Cons of PGD

PGD offers several benefits. It can significantly reduce the risk of having a child with a genetic disorder and decrease the likelihood of miscarriage. It also allows parents to have a biological child who might serve as a stem cell donor for a sick sibling.

However, PGD does come with potential risks and drawbacks. The procedure may not always be 100% accurate, and there's also a small risk of damaging the embryos during testing. Ethically, some people argue that PGD could lead to "designer babies" where parents choose specific traits for their children.

V. Making the Decision: Is PGD Right for You?

Deciding whether to undergo PGD is a personal choice that should be made after careful consideration and discussions with your partner and medical team. You should consider your risk of passing on genetic disorders, your age, and your personal feelings about potentially discarding embryos.

Financially, PGD can be expensive, often costing several thousand dollars. It's essential to understand your insurance coverage and consider whether you're prepared for this financial commitment.

VI. Success Rates and Alternatives to PGD

The success rates for PGD vary based on several factors, including maternal age and specific genetic issues. However, recent studies indicate that the implantation success rate can be over 50%.

If you decide that PGD isn't right for you, there are other alternatives available. For example, prenatal testing can identify genetic disorders in the fetus during pregnancy. Adoption and egg/sperm donation are also options for starting a family without passing on genetic disorders.


Understanding the ins and outs of preimplantation genetic diagnosis is crucial for anyone considering this procedure. It's a complex process with many pros and cons to weigh. We hope that this blog post has provided a comprehensive overview of PGD and its lab procedures, and we encourage you to continue your research and consult with professionals as you make this important decision about your future.

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