Preimplantation Genetic Diagnosis - PGD Testing from ALS, Inc.
 

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How are the PGD biopsies performed?

Two types of biopsy are possible: Blastomere and Polar Body.

Blastomere Biopsies
Blastomere biopsies can test for maternally and paternally derived conditions, as well as X-linked disorders by gender determination. Cryopreservation technology makes embryo testing even more practical and convenient.

Essentially, blastomere testing has become the most popular and accepted method of PGD. Future applications even suggest the culturing of biopsied blastomeres for more exhaustive testing possibilities.

Polar Body Biopsies
In contrast, a polar body biopsy tests the by-product of the first meiotic division. Such polar body testing is not suitable for paternally derived single-gene and embryonic chromosomal disorders. Testing resources are also wasted, since a significant percentage of IVF and ICSI oocytes usually fail to fertilize. Testing polar bodies can also lead to difficulties in result interpretation.


How is PGD performed?

An embryo, artificially fertilized for IVF, is laboratory cultured for 3 days. By this time, such an embryo should be comprised of approximately 6 to 8 blastomeres.

A biopsy is then performed on the embryo with micro-manipulation techniques. Typically, 1 or 2 blastomeres are removed for analysis. At such an early stage of embryonic devolvement, the blastomeres are not yet differentiated, and are typically identical to each other in every meaningful way.

Blastomeres are genetically tested using one of two methods: Fluorescence In Situ Hybridization (FISH), or PCR-based DNA amplification. Results can be available within two days. During testing, embryos can be cultured or cryopreserved for future implantation.


Is PGD safe?

Yes. Years of successful PGD work in animals and numerous human tests have proven the procedure to be safe and reliable.

However, potential problems with FISH technology include hybridization errors, other technical difficulties, and an incapacity to detect structural abnormalities frequently associated with birth defects. Problems with PCR technology include the risk of amplification complications, and other technical concerns. These may result in a small chance for missing an abnormality, or excluding a normal embryo. The estimated error rate, however, is less than 10%.

In some cases, mosaicism may further complicate the diagnosis. As a precaution, though, all patients who have utilized PGD should also routinely undergo prenatal testing.


Where can I get my PGD test?

 

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