How Important Is Genetic Screening For IVF Babies?

Should I Have Genetic Testing During IVF?

There is no evidence that in vitro fertilization (IVF) significantly increases your risk of having a baby with a birth defect. For this reason, if you are having IVF therapy, it does not mean you should automatically pay the extra hefty fee for genetic screening. There are 2 main types of IVF genetic testing. The first is called pre-implantation genetic diagnosis (PGD). This is where either or both parents carry a genetic abnormality and doctors will test specifically for this disorder in the embryo before it is implanted. Preimplantation genetic screening (PGS) is where both parents are assumed to be chromosomally normal, but they want the embryo screened for abnormalities, just to be safe. Both tests are an alternative to genetic testing during pregnancy, where procedures such as amniocentesis or chorionic villus sampling (CVS) are used. Of course testing before the embryo is implanted is better because it eliminates the dilemma of a termination if the prenatal test is positive.

Who Needs It?

PGD is currently only recommended for couples with a known risk of having a baby with a genetic defect. Examples include parents with genes for Huntington disease, sickle cell disease, hemophilia, Duchenne muscular dystrophy and fragile X syndrome. Couples will need to work with genetic advisors and specialists.

1. PGS may be offered to women who fail to become pregnant after several IVF cycles.
2. Or to women who experience frequent and unexplained early miscarriages.
3. Older women who are worried that their advanced age raises their risk of Down syndrome and other similar chromosome abnormalities may be offered PGS.
4. If man has gonadal failure - a severe cause of male infertility - this raises the risk of chromosome abnormalities in his offspring. PGS testing can offer peace of mind.

What Are The Pros And Cons?

Overall there is a much stronger case to be made for PGD than PGS.

PGD can help to eliminate the risk of diseases like Tay-Sachs disease, cystic fibrosis, X-linked dystrophies and Huntington disease. It also means parents can test before pregnancy has occurred, which reduces the stress of having to make a decision about a termination later.

PGS on the other hand has its limitations. For example, even if the test result comes back 'negative' for possible Down syndrome, an amniocentesis or CVS is still recommended during pregnancy for complete accuracy. The Society for Assisted Reproductive Technology (SART) states that they do not think PGS helps improve IVF success rates; nor do they support its use for advanced maternal age, recurrent pregnancy loss or failed implantation in previous IVF cycles.

Related Articles
• How much does IVF cost?: Cost of IVF procedures
• Personal stories: How many IVF cycles are average before becoming pregnant?
• Improving your success rate: How can I improve my chance of IVF success?

• Need more information about this? See: Problems With Fertility.
• Got another question? See: Womens Health Questions

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