PGD (PGT-M) Introduction: Genetic Testing in IVF

What Is PGD (PGT-M)?

Preimplantation Genetic Diagnosis (PGD), formally known as PGT-M, is a genetic testing method used in IVF to detect specific inherited diseases before embryo implantation.

This technology helps couples who carry genetic conditions select embryos without the disease-causing mutation, reducing the risk of passing hereditary disorders to their children.

👉 PGD is often used alongside chromosomal screening technologies such as PGT-A (PGS) to provide a more comprehensive embryo evaluation.

How Does PGD Work?

Similar to PGT-A, PGD requires embryos to be cultured to the blastocyst stage before biopsy. The process typically includes:

Collecting blood samples from the couple (and sometimes family members)
Identifying known genetic mutations
Designing specific probes or performing genetic sequencing (e.g., WES)
Testing embryo cells in a molecular genetics laboratory
Selecting embryos without the genetic mutation for transfer

This process is typically integrated into a complete IVF treatment plan.

👉 Learn more about the full IVF process here.

Who Should Consider PGD?

PGD is recommended for individuals or couples with known genetic conditions, such as:

Thalassemia
Hemophilia
Spinal Muscular Atrophy (SMA)
Ankylosing Spondylitis
Spinocerebellar Ataxia
Other inherited single-gene disorders

PGD is also commonly considered for individuals with higher reproductive risks, including those of advanced maternal age or with a history of implantation challenges.

👉 Learn about recurrent implantation failure and possible solutions.

Benefits of PGD in IVF

Reduces the risk of inherited genetic diseases
Improves the chances of selecting healthy embryos
Supports informed and proactive family planning

When combined with advanced embryo selection strategies, PGD can help improve overall IVF success outcomes.

👉 Explore key factors that influence IVF success rates.

Limitations of PGD

PGD is designed to detect known genetic mutations. However, it has certain limitations:

Cannot detect unknown genetic mutations
Cannot identify non-familial genetic conditions
Does not screen for chromosomal abnormalities (unless combined with PGT-A)
Rare cases may have undetectable genetic variations

👉 For this reason, prenatal testing (such as amniocentesis) is still recommended after pregnancy.

Frequently Asked Questions About PGD

Can PGD guarantee a 100% healthy baby?

No, PGD cannot guarantee a completely healthy baby. While it significantly reduces the risk of specific inherited diseases, some genetic conditions may not be detectable. Therefore, regular prenatal checkups remain essential to monitor fetal development.