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Preimplantation Genetic Diagnosis (PGD)


When planning for a pregnancy, many prospective parents want to be as certain as possible that their child will be healthy. This is especially true for patients using assisted reproductive technology (ART) to achieve pregnancy. PGD and IVF can help intended parents choose an embryo of their desired sex that does not carry specific genetic abnormalities.

What Is PGD?

Preimplantation genetic diagnosis (PGD), also known as preimplantation genetic testing (PGT), is a type of IVF genetic testing. Patients undergoing in vitro fertilization (IVF) can use PGD to detect certain chromosomal abnormalities and diseases in their embryos. PGD testing can also be used for family balancing, as this technique allows for the sex of the embryos to be determined.

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What Is PGD Used For?

Disease Screening

Screening for genetic diseases is the primary purpose of PGD. This process gives prospective parents security that their child will not have the genetic or chromosomal abnormalities evaluated for that result in certain disorders.

Genetic abnormalities can cause long-term health concerns. Extra or missing genetic material in an embryo can also result in a loss of pregnancy after implantation.

While this process will not catch all potential diseases, testing and diagnosis can detect a long list of conditions before implantation.

Sex Selection

One of the benefits of preimplantation genetic diagnosis is the ability of parents to select their baby’s biological gender (sex).

This allows patients with sex-linked genetic disorders or those who are potential carriers to choose a baby of the sex that is less likely to be affected.

Sex selection also gives parents an advantage in family planning if they prefer to have a baby girl or baby boy.

How Does Preimplantation Genetic Diagnosis Work?

Embryo Culture and Biopsy

During the embryo culture stage of an IVF procedure, the highest quality sperm are added to the retrieved eggs. The eggs are examined the next day to confirm fertilization and that embryos have started to develop.

A precision biopsy will remove one or more cells (blastomeres) from the embryo for testing.

Genetic Testing and Diagnosis

The biopsied cells are sent to a specialty lab to test the genetic code.

If either of the parents has a genetic disease or a family history of such, we may be able to test for that specific condition. Some genetic diseases can be detected even if they are recessive, giving parents more information when implanting an embryo.

Embryo Transfer

After the genetic evaluation of each embryo, the embryo(s) of the desired sex (if determined) that lack genetic abnormalities are transferred into the uterus to achieve pregnancy.

Frequently Asked Questions About PGD

Who should have embryo genetic testing done?

Several genetic tests can be performed, each of which examines for different genetic conditions. Most prospective parents who choose PGD/PGT have a personal history or family history of genetic abnormalities. Certain ethnic groups may have a predisposition toward specific genetic diseases and choose to use PGD.

Can PGD damage an embryo?

The risk of the embryo being damaged during testing and diagnosis is low, but it is not zero. We believe that the risk of complications from testing is far lower than the risk of complications from implanting an embryo with genetic abnormalities. However, because the risk of complications does exist, we only recommend PGD when there is a reason to do so.

Can PGD be done without in vitro fertilization?

PGD can only be done as part of an IVF cycle. External embryo fertilization and growth is necessary to allow for biopsy of the embryos before implantation into the uterus.

Does the risk of genetic abnormalities in the ovum increase with a female’s age?

Yes. As women’s eggs age, there is an increased risk of genetic abnormalities. This is one reason fertility can decrease as a woman ages. If a woman has struggled to get pregnant over multiple months, PGD can increase the odds of achieving a successful pregnancy.

Will PGD detect all genetic abnormalities?

No. Preimplantation genetic diagnosis only tests for specific genetic abnormalities and only if the lab has reason to look for them. This means that certain genetic diseases may be present if they are not tested for.

How much does PGD cost?

The cost of PGD will vary depending on the number of embryos tested and the tests being performed. Some genetic tests are faster, simpler, and less expensive than others.

When you discuss which genetic conditions you want to test for, Dr. Saadat will be able to give you an accurate genetic testing cost. Our page on the cost of IVF can provide more information about cost factors.

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