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Noninvasive prenatal tests are screening tests, which means that an abnormal result raises concern that a fetus may have an abnormality, but the result does not give definitive information. If a test is abnormal, prospective parents may choose to have an invasive prenatal test to be certain about whether a fetus has an abnormality.
- Overview
- Test Details
- Results and Follow-Up
- Additional Details
Prenatal genetic screenings and diagnostic tests provide information on the fetus’s health. It can help families and healthcare providers make decisions about the pregnancy or the fetus. Genetic tests check for congenital conditions like Down syndrome, trisomy 13 and spina bifida. All genetic testing is optional.
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Is it necessary to get genetic testing during pregnancy?
No, it’s not necessary. It’s a personal choice based on your own beliefs or medical history. Some parents want to know if their baby will be born with a condition to plan for their care. Unfortunately, some families receive devastating results and have to decide whether to continue with the pregnancy. The choice to proceed with prenatal screening or diagnostic testing is entirely up to you and your healthcare provider. Advertisement
How do they do prenatal genetic testing?
Most prenatal genetic screenings use the pregnant person’s blood. If the screening test results indicate a high risk for a congenital condition, your provider will perform more invasive tests to diagnose specific conditions. Invasive diagnostic tests include amniocentesis and CVS.
What screenings are done in the first trimester?
The first-trimester serum screening, cell free fetal DNA screening and the NT ultrasound exam all occur at 11 to 14 weeks of pregnancy. Combining information from the blood tests with the ultrasound findings indicates how high the risk is for some common chromosomal disorders, like Down syndrome. You can have carrier screenings at any point during your pregnancy, even as early as 6 to 10 weeks gestation. These tests check for “single gene” genetic conditions that you can potentially pass to the fetus. Carrier screening won’t identify conditions due to abnormal chromosome numbers, like Down syndrome. Cell-free fetal DNA testing (noninvasive prenatal screening or testing) checks your blood for fetal DNA. It looks for chromosomal conditions like Down syndrome, trisomy 13 and trisomy 18. Your provider can perform this screening as early as 10 weeks gestation, or later during pregnancy.
When should I get my test results?
Results from genetic screening tests take several days. Results from diagnostic testing can take several days or even weeks to complete. In most cases, they’re sent to a lab for testing. Your healthcare provider will receive your test results first, then share the results with you.
What do the results of genetic screening tests mean?
Genetic screening tests measure risk only. They don’t tell you for sure if the fetus has a genetic condition. A positive result means the fetus is at a higher risk for that disorder than the general population. A negative result means the fetus is at a lower risk of having that disorder than the general population. Your healthcare provider may suggest diagnostic testing like CVS or amniocentesis. They may refer you to a genetic counselor who specializes in high-risk pregnancies and genetic conditions. Don’t be afraid to talk to your providers about what your test results mean and the risks and benefits of diagnostic testing.
Are genetic screening tests bad for you?
No, they aren’t bad for you. Diagnostic tests like amniocentesis or CVS carry some risk. That’s why diagnostic tests are only performed when providers suspect a genetic condition and not during routine prenatal genetic screenings.
What week of pregnancy is genetic testing done?
It depends on the test. Most providers perform genetic testing after 10 weeks of pregnancy and before 22 weeks of pregnancy. At this time, neither screening nor diagnostic tests can occur prior to 10 weeks gestation.
Do genetic screening tests tell you the baby’s gender?
Cell-free DNA screening (NIPT) can give information about fetal sex in addition to the information about the risks for genetic conditions. Ultrasound may also be able to tell you about sex. Being able to determine fetal sex assignment is a bonus, not the main reason to do the test.
Jun 6, 2023 · So is every family. But try not to draw conclusions before you can review the test results with your provider. We will give you the complete picture and help you make the best choice for you and your pregnancy. To discuss noninvasive prenatal testing with a genetic counselor, call 214-645-8300 or request an appointment online.
At the University of Chicago Medicine, our experienced prenatal and reproductive genetics team will educate you about various types of genetic disorders and your baby’s risk. We can answer all your questions, provide the most advanced genetic testing and help you sort through complicated emotions and decisions. Refer a Patient: 773-702-6118.
The neural tube is a structure in the early development of the central nervous system (the spinal cord and the brain). This structure is completely formed by about 6 weeks of pregnancy. Incomplete or failed formation of the neural tube leads to congenital anomalies of the brain or spinal cord and nerves.
This test can accurately determine the risk of Down syndrome and some other chromosomal abnormalities in couples with a high risk of having a fetus with a chromosomal abnormality. The test can be done as early as 10 weeks of pregnancy but can also be done later. Many doctors offer this test to all pregnant women.
People also ask
Should I worry about prenatal testing if my baby has a genetic condition?
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Do you need a prenatal test?
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Should you test for genetic conditions during pregnancy?
Aug 6, 2024 · This test measures the levels of four substances in the blood. Results show your risk of carrying a baby who has certain genetic conditions caused by chromosome changes. These conditions include Down syndrome and trisomy 18. The test also can check for a higher risk of conditions that involve the brain or spinal cord.
