PGD (Embryo Biopsy)

Preimplantation Genetic Diagnosis (PGD) – Embryo Biopsy

Preimplantation Genetic Diagnosis (PGD) is a genetic testing technique used during in vitro fertilisation (IVF). It involves examining the genetic material of an embryo before it is transferred to the uterus. The aim is to identify embryos that do not carry specific genetic diseases, increasing the chances of a healthy pregnancy.

During IVF, embryos are created in the laboratory. A few cells are carefully removed from the embryo in a process called embryo biopsy, and these cells are tested for genetic abnormalities.

PGD and PGS

Two types of preimplantation genetic tests are commonly discussed:

• PGD (Preimplantation Genetic Diagnosis):
  Used to detect specific genetic diseases caused by mutations in a single gene.

• PGS (Preimplantation Genetic Screening):
  Used to check whether the embryo has the correct number of chromosomes.

Both tests are performed before embryo transfer during IVF so that doctors can select embryos with the best chances of developing into a healthy baby.

Birth defects and genetic disorders may occur in some pregnancies, ranging from minor structural abnormalities to serious genetic conditions. Genetic testing of embryos helps reduce the risk of transferring embryos with known genetic problems.

Who May Benefit from PGD?

PGD is generally recommended for couples who have a higher risk of passing genetic diseases to their children, including:

• Couples with a family history of serious inherited diseases

• Individuals who carry known genetic mutations

• Couples who have previously had a child with a genetic disorder

• Couples who want to prevent transmission of specific inherited conditions

PGD can detect certain single-gene disorders, such as:

• Cystic fibrosis

• Sickle cell anemia

It may also be used in families with sex-linked genetic disorders, including:

• Fragile X syndrome

• Duchenne muscular dystrophy

In some situations, PGD may also be used to identify embryos that are genetically compatible with an existing child who requires stem cell or bone marrow transplantation.

Purpose of PGD

The main goals of PGD are to:

• Identify embryos free from specific genetic diseases

• Improve the chances of a healthy pregnancy

• Reduce the risk of inherited genetic disorders

• Assist couples with known genetic risks in having healthy offspring

PGD has become an important advancement in assisted reproductive technology, allowing genetic evaluation of embryos before pregnancy begins.