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Why it's done
By Mayo Clinic staffFirst trimester screening is done to evaluate your risk of carrying a baby who has Down syndrome. The test also provides information about the risk of Edwards syndrome. The test may help detect certain heart defects or skeletal problems as well. First trimester screening doesn't evaluate the risk of neural tube defects, such as spina bifida.
Because first trimester screening can be done earlier than most other prenatal screening tests, you'll have the results early in your pregnancy. This will give you more time to make decisions about further diagnostic tests, medical treatment and the course of the pregnancy. If your baby is diagnosed with a genetic condition, you'll also have more time to prepare for the possibility of caring for a child who has special needs.
Other screening tests can be done later in pregnancy. An example is the quad screen, a blood test that's typically done between weeks 15 and 20. The quad screen can evaluate your risk of carrying a baby who has Down syndrome or Edwards syndrome, as well as neural tube defects, such as spina bifida. Some health care providers choose to combine the results of first trimester screening with the quad screen, although you won't learn the final results of this sequential testing until both tests are completed and analyzed.
Remember, first trimester screening is optional — and test results only indicate whether you have an increased risk of carrying a baby who has Down syndrome or Edwards syndrome, not whether your baby actually has one of these conditions. Before the screening, think about what the results will mean to you. Consider whether the screening will be worth any anxiety it may cause, or whether you'll handle your pregnancy differently depending on the results. You might also consider what level of risk would be enough for you to choose a more invasive follow-up test. If cost is a concern, ask your insurance provider for coverage details.
- Canick JA, et al. First trimester and integrated screening for Down syndrome and trisomy 18. http://www.uptodate.com/home/index.html. Accessed March 8, 2010.
- Benacerraf BR. Sonographic findings associated with aneuploidy. http://www.uptodate.com/home/index.html. Accessed March 8, 2010.
- Chervenak FA, et al. Ethical considerations in first-trimester Down syndrome risk assessment. Current Opinion in Obstetrics and Gynecology. In press. Accessed March 8, 2010.
- Kagan KO, et al. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound in Obstetrics & Gynecology. 2008;31:618.
- Screening for birth defects. American Congress of Obstetricians and Gynecologists. http://www.acog.org/publications/patient_education/bp165.cfm. Accessed March 8, 2010.
- Routine tests in pregnancy. American Congress of Obstetricians and Gynecologists. http://www.acog.org/publications/patient_education/bp133.cfm. Accessed March 8, 2010.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. April 11, 2010.
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