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Pre-Implantation Genetic Diagnosis (PGD) in New Jersey

Couples who want to have children but are afraid of passing on a known genetic condition may be considering pre-implantation genetic diagnosis, or PGD. Offered at our New Jersey practice, this is a procedure that can be done during IVF treatment and may reduce the chances of having a child with a genetic disease or abnormality.

• What is PGD?
• What are the Limitations of PGD?
• What are the Risks?
• Bottom Line

What is PGD?

Pre-implantation genetic diagnosis (PGD), available at our New Jersey practice, is a relatively new technique for genetic testing of embryos prior to transfer. It consists of four steps:

1. In Vitro Fertilization (IVF) to generate the embryos.

2. Embryo biopsy, during which one cell or two cells of the developing embryo are removed for genetic analysis (usually on Day 3 of development).

3. Limited genetic analysis of the cells in specialized laboratory.

4. Transfer of apparently "normal" embryos to the uterus of the patient.

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What are the Limitations of PGD?

• Pre-implantation genetic diagnosis can only test for 11 out the 23 pairs of chromosomes. Abnormalities in the remaining 12 chromosomes cannot be detected.
• The error rate for PGD in detecting an abnormal number of chromosomes is currently 10%.
• PGD cannot detect genetic mosaicism. That's when genetic abnormalities may be present in one cell of the embryo, not in another.
• It is possible that none of the embryos will be found to be "normal", but, because of the limitations described above, they may, indeed, be normal.
• For chromosomal translocations, PGD cannot detect abnormalities in chromosomes other than the one known to be involved in the translocation.

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What are the Risks?

At present, the risks associated with embryo biopsy are unknown. Although a rare occurrence, it is possible to accidentally damage the embryo during biopsy that would result in developmental arrest. Embryo biopsy delays cell division by a few hours and some embryos fail to recover from biopsy. Embryo biopsy and/or genetic analysis may fail due to technical problems. It is simply impossible to know the relative benefits for any individual case.

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Bottom Line

Pre-implantation genetic diagnosis (PGD) is offered at our New Jersey practice because there are some cases in which it can be beneficial. However, it is expensive and at best can only detect abnormal numbers of 11 of the 23 pairs of chromosomes and, in some cases, a specific abnormality in the structure of a single chromosome. Moreover, PGD has a significant margin of error. PGD has been hyped and has led to unrealistic patient expectations (i.e. only PGD can give you a "normal" baby). PGD only scratches the surface of the potential genetic problems of the embryo. Genetic problems that cause embryos to stop growing after implantation are, by and large, undetectable by PGD. However, new technologies are being developed that may provide more accuracy and more detailed analysis of the embryonic genome.

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Contact Us

If you would like to know more about this procedure or are wondering if pre-implantation genetic diagnosis (PGD) is for you, contact our New Jersey fertility center today. We will be happy to schedule a consultation for you.

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