Preimplantation Genetic Diagnosis (PGD)

PGD is a procedure that could be done to detect certain genetic defects in an embryo which is created via in-vitro fertilization (IVF).
1.          Who can benefit from PGD?
Couples who are at risk of passing on certain genetic defects to their unborn child. Possible suitable couples include:
  • Women more than 35 years old
  • Chromosomal disorder
  • Carriers of single gene disorders
  • Carriers of sex-linked genetic disorders
  • Recurring pregnancy loss due to underlying genetic problems
2.          How is PGD performed?
  • The women would have to undergo the process of IVF to produce embryo.
  • A single cell is removed from the embryo
  • DNA is retrieved from the cell via a technique known as polymerase chain reaction (PCR)
  • An analysis is done on the DNA sequence to detect any genetic defect.
  • Only when there is no genetic defect is identified would then the embryo is being transferred into the women’s womb.


3.          What diseases that PGD could detect?
  • Single gene disorders e.g cystic fibrosis, Tay-Sachs disease or sickle cell anemia.
  • Recessive sex-linked disorders e.g hemophilia, fragile X syndrome
  • Chromosomal disorders e.g deletion, translocation, inversion
  • Dominant sex-linked disorders e.g Rett syndrome
4.          What are the benefits of doing a PGD?
  • Provides an option for the couple to either continue or terminate the process of pregnancy
  • Reduces the need for invasive test during pregnancy e.g amniocentesis to determine whether the fetus has the genetic defect.
  • Reduces medical expenses that may be associated if the baby has inherited the genetic defect.
5.          What are the risks associated with PGD?
  • In certain cases, once the defective embryo matures it does not necessarily have the genetic defect.
  • PGD may be associated with destruction of defective embryo.
  • Some of the genetic defects may not manifest until the individuals is in their late 30 or 40s.
6.          How could I do a PGD?
Unfortunately PGD is not available in all hospitals. Ask your doctor about this test.


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