Preimplantation Genetic Diagnosis ( PGD) and Gender Selection – Beverly Hills, California and Other Locations

Preimplantation genetic diagnosis (PGD) is based on the screening of individual cells from a pre-embryo during the in vitro fertilization (IVF) process, for genetic diagnosis or gender selection. Preimplantation genetic diagnosis / PGD at our Beverly Hills, California-based ART Reproductive Center is a primary focus, and director Dr. David Hill is a nationally recognized expert in the use of PGD. Learn more here about this significant advance in reproductive technology.

• What is preimplantation genetic diagnosis (PGD)?
• Who can benefit from PGD?
• How is PGD performed?
• What can be determined about a pre-embryo by PGD testing?
• PGD-FISH (fluorescent in situ hybridization)
• PGD-PCR (polymerase chain reaction)
• Can PGD of pre-embryos improve the chance of conceiving through IVF?
• What does the future hold for the genetic testing of embryos?

What is preimplantation genetic diagnosis (PGD)?

The preimplantation genetic diagnosis (PGD) procedure allows the screening of embryos for specific genetic traits before an embryo is implanted in a patient's uterus (that's the "preimplantation" part of "preimplantation genetic diagnosis". Also known as "embryo biopsy," PGD allows couples at risk for certain genetic disorders to determine which of their embryos are affected, and which are not, before the embryos are used to establish a pregnancy.

We use PGD at the Southern California Reproductive Center to detect abnormalities in chromosomes or hereditary conditions. The first reports of PGD used in conjunction with IVF treatments appeared in the early 1990s, and since then hundreds of normal, healthy babies have been born through the use of this advanced reproductive technology.

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Who can benefit from PGD?

PGD can greatly increase the chance of pregnancy because it provides more intensive pre-screening of the embryos.

PGD can reduce the risk of multiple pregnancy because fewer embryos are needed for implantation.

In addition, the patients who can benefit from PGD include:

• Couples who have a family history of inherited disease
• Couples who want to use gender selection to prevent a gender-linked disease
• Women with a history of unexplained miscarriage
• Women who have had repeated failures with IVF
• Women who are more than 39 years old

Family balancing is one of several issues that can arise with the concept of gender selection; our physicians at the Beverly Hills office of the Southern California Reproductive Center will be glad to discuss any concerns that you may have about selecting the gender of your child.

If you feel that your reproductive treatment plan should include preimplantation genetic diagnosis (PGD), our offices in Beverly Hills, Santa Barbara, Valencia, and Ventura can help you. Contact the Southern California Reproductive Center to speak with one of our fertility specialist physicians.

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How is PGD performed?

PGD requires patients to undergo an in vitro fertilization (IVF) cycle in order to produce pre-embryos available for testing.

Before the transfer of a pre-embryo back to a woman's uterus, one or two cells (called blastomeres) are removed from the pre-embryos. These blastomeres are evaluated for normalcy. Following completion of the evaluation (typically one to two days), only the normal pre-embryos are transferred back to the woman's uterus to establish a pregnancy.

What can be determined about a pre-embryo by PGD testing?

PGD can be used for determining chromosomal health (with PGD-FISH) or the presence or absence of specific genes related to hereditary disease (with PGD-PCR).

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PGD-FISH (fluorescent in situ hybridization)

Chromosomal abnormalities occur when there is an incorrect number of chromosomes. Some chromosomes are more likely than others to become unpaired, which can lead to early embryonic demise (chromosomes 13, 16, 18, and 22) or affect term births, such as Down syndrome (trisomy 21). Numerical mistakes in the sex chromosomes can lead to Turner's syndrome (XO), or Klinefelter's syndrome (XXY). Sometimes, chromosomes can break apart and attach to other chromosomes, a condition known as translocation. Checking for normal chromosome pairing is done using a technique called fluorescent in situ hybridization (FISH), an established component of the preimplantation genetic diagnosis ( PGD) testing at the Beverly Hills-based Southern California Reproductive Center.

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PGD-PCR (polymerase chain reaction)

The method of analysis for gene disorders is called polymerase chain reaction (PCR). PCR involves a technique that greatly multiplies the genetic code contained in a single blastomere, so that the specific gene or genes being looked for can be detected. Preimplantation genetic diagnosis is significantly enhanced by the use of PCR.

Examples of hereditary conditions caused by gene disorders that PCR can help detect include:

• Cystic fibrosis
• Tay-Sachs disease
• Duchenne muscular dystrophy
• Sickle cell anemia
• X-chromosome-linked disorders

Can PGD of pre-embryos improve the chance of conceiving through IVF?

Until the development of PGD, assisted reproductive technology labs could rely only on the appearance of pre-embryos to decide which ones were suitable for implantation into the patient's uterus. The advent of PGD proved that normal appearing pre-embryos frequently have an abnormal number of chromosomes, rendering them incompatible with the development of a normal pregnancy.

PGD allows embryologists to select pre-embryos that are balanced for the tested chromosomes. PGD testing enables the implantation of only selected pre-embryos, increasing the chance for pregnancy. In addition, since the quality of the pre-embryo has been proven, fewer pre-embryos are needed to establish a successful pregnancy, greatly diminishing the chances of a multiple pregnancy. Indeed, the use of PGD at the Southern California Reproductive Center has been instrumental in bringing many babies into the world.

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What does the future hold for genetic testing of embryos?

In 1999, the genetic code of an entire human chromosome was sequenced (mapped). The completion of this revolutionary development in medical science will allow the continuing discovery of the sequence of the code that comprises specific units of genetic information. Genes are responsible for directing the construction of every cell in our body, down to the tiniest molecular detail. Therefore, it is reasonable to expect that the function of all genes, and the detection of abnormal genes, comprising the human genome will be categorized. This knowledge may in turn be used to reduce or eliminate susceptibility to hereditary, infectious, and cancerous diseases. Someday, in assisted reproduction technology (ART) application, only a single pre-embryo will be needed to establish a pregnancy — and it will be a healthy pregnancy.

Contact the Southern California Reproductive Center about Preimplantation Genetic Diagnosis

If you're concerned about your family history or gender-linked disease, contact the Southern California Reproductive Center about preimplantation genetic diagnosis (PGD) for genetic screening or for gender selection at our offices in Beverly Hills, Santa Barbara, Valencia, and Ventura, California. We're here to discuss all your concerns with you.

 

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