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Genetic Testing

The benefits of prenatal genetic testing

Genetic testing is any medical procedure performed to identify whether an individual possesses or is a carrier of chromosomal abnormalities or hereditary diseases. Prenatal genetic testing usually refers to procedures that predict or identify genetic diseases or chromosomal abnormalities in a fetus.

Genetic tests can be either screening or diagnostic tests. Screening tests can't identify whether a genetic abnormality is present; they can only determine the level of risk or probability that one will occur. For example, nuchal translucency (NT) screening cannot determine whether a baby will have Down syndrome, but it can predict the approximate chance that it will. To know more definitively, this early prenatal screening test must be followed up later by a prenatal diagnostic test.

Diagnostic tests determine with relative accuracy whether or not a certain abnormality or disease is present. Amniocentesis and chorionic villus testing (CVS) both test for, among other things, the actual presence of the chromosomal abnormality that is indicative of Down syndrome. However, these diagnostic tests are also considerably more invasive than the NT screening, and therefore come with risks to consider before deciding to have them performed.

Benefits and Risks of Genetic Testing

Parents-to-be who are trying to decide whether to proceed with a test will likely ask themselves, "What is genetic testing's accuracy rate?" In most cases it is high to very high, especially in the case of invasive procedures; amniocentesis, for example, predicts chromosomal abnormalities and neural tube defects with 95 to 99 percent accuracy. However, there is a small chance that this test will lead to miscarriage, and an even smaller chance that the needle could injure the fetus. Genetic testing in medicine is much like many other medical procedures: ultimately it is up to the individual to decide whether the benefits outweigh the risks.

And there are considerable potential benefits to genetic testing for diseases and other conditions. This information allows doctors to make any necessary changes to prenatal care. It can also be helpful for parents-to-be to know in advance whether their child is going to have particular medical challenges or special needs so that they have time to prepare and make any appropriate lifestyle adjustments.

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