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According to the World Health Organization, genetic disorders and congenital birth defects occur in approximately 2% to 5% of all live births worldwide.
Why should you get tested?
You should get tested if you’re pregnant or thinking about getting pregnant. Getting tested before the baby arrives could improve treatment outcomes later.
Who should get tested?
Pregnant women and women who are thinking about getting pregnant should get tested.
When to get tested
It’s best to have DNA genetic testing and analysis as early as possible in your pregnancy. If you’re thinking about becoming pregnant, you can have the test done months or even years in advance.
DNA genetic testing and analysis requires no special preparation. If you have other tests on the same day, you may need to fast or refrain from taking certain medications before you provide your sample. For example, the comprehensive metabolic panel sometimes requires overnight fasting, and vitamin C may interfere with the results of a urine test. Talk to your doctor to determine the best way to prepare for any other tests you have scheduled.
How DNA genetic testing and analysis works depends on the type of test you have done. If the test requires a blood sample, you’ll have blood drawn from one of the veins in your arm. Saliva tests involve spitting some of your saliva into a tube so that it can be tested for genetic material.
If your doctor recommends a test involving cells from the inside of your cheek, you’ll use a swab to brush between the inside of your cheek and your upper gum. It’s important to swab for about 30 seconds to collect enough cells for the laboratory to isolate DNA from the sample.
Many hospitals use third-party laboratories to do this type of testing, so it may take one to two weeks to receive the results. If DNA genetic testing and analysis uncovers a mutation in your genes or your partner’s genes, that doesn’t automatically mean your baby will have a genetic disorder. If you’re already pregnant, you can have further diagnostic testing to determine if the baby has the disorder associated with your gene mutation(s). If you’re thinking about becoming pregnant, you’ll have the opportunity to meet with a genetic counselor to discuss your options.
Want to know more about DNA testing? Learn from the sources used in this guide.