What is Preimplantation Genetic Diagnosis (PGD)?

Preimplantation genetic diagnosis (PGD) is a procedure in use in Honolulu, Hawaii as well as in other parts of the country and the world. It is a technology that fertility specialists may use to identify genetic defects that may be present in embryos that are created through the use of in vitro fertilization (IVF), so it is used with many couples or individuals who are experiencing infertility. If one or both of the parents have a known genetic abnormality, PGD may be used to identify defects in embryos. The embryos are put through series of tests to check for the most common chromosome abnormalities so that normal embryos are used during the procedure.

Of course, not all genetic disorders may be effectively diagnosed using PGD, but identifying several potential abnormalities before the embryos are transferred to the woman's uterus helps to reduce the risk of genetic defects in embryos. The procedure works by taking a couple cells from the embryos by biopsy for testing. This is done about three days after fertilization with in vitro fertilization. Some cases may allow the specialist to remove the cells at a later stage, after about five days. Removing cells at a later stage may be less damaging and allows the doctor to analyze more cells for a more accurate diagnosis.

Patients who are interested should discuss PGD with a fertility specialist to help them determine if it is right for them. Those who have a history of miscarriage due to genetic disorders, have experienced several IVF failures, men with severe male factor infertility, those with a child who has a genetic disease and may be at a higher risk of having another with a genetic defect and couples who have a family history of X-linked disorders may be considered candidates for treatment. Those who are looking for a tissue match for a sick sibling who may be cured using transplanted cells may also find this procedure helpful. What's more, those who are carriers of various autosomal recessive diseases or autosomal dominant diseases may be candidates for this treatment, too.

There may be a risk of a false positive or false negative test result with PGD, as with many other tests. Chromosomal inconsistencies may be present from one cell to the next, which may lead to the false test result as the cell that is used for PGD may not be representative of all other cells of the embryo. In some cases, with only a couple cells used, inconclusive genetic results may lead to inaccuracies in diagnosis. As a result, additional testing may be performed in early pregnancy to defect or confirm certain problems.

The cost of the procedure is expensive and may be around $3,500; most insurance plans do not cover the cost of treatment, although patients are encouraged to speak with their Honolulu fertility specialist as well as insurance company for more information and to determine if the procedure may be covered.

Learn more about preimplantation genetic diagnosis in Honolulu, Hawaii.

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