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PGD: What Is Preimplantation Genetic Diagnosis?

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Preimplantation genetic diagnosis (PGD) is a laboratory procedure that is used in conjunction with in vitro fertilization (IVF) to screen for single-gene defects that may cause genetic disorders. It is a specific test offered to patients who are at a high risk of transmitting a known genetic disorder to their child. By using PGD, families affected by essentially any inherited disease can reduce the risk that their children will suffer from that genetic disorder

PGD is also an option for families in search of a bone marrow donor — they may be able to use PGD with IVF to conceive a child who can provide matching stem cells.

PGD is most often used by couples at risk of passing on inheritable genetic diseases to their embryos. The fertility doctor knows what familial diseases the parents are at risk of passing on and uses PGD to diagnose an embryo as a carrier of a specific genetic mutation associated with those diseases.

Preimplantation genetic diagnosis (PGD) screens for single-gene defects that may cause genetic disorders. Some of these genetic disorders are:

  • Cystic fibrosis
  • Hemophilia
  • Huntington’s disease
  • Muscular dystrophy
  • Sickle cell anemia
  • Marfan syndrome
  • Tay-Sachs disease

In PGD for single gene mutation, the specialists will not discover any genetic mutations other than the ones they are specifically looking for.

Preimplantation genetic testing for chromosomal abnormalities of the embryo is called preimplantation genetic screening (PGS).


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