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Why it's done
By Mayo Clinic staffThe quad screen is done to evaluate your risk of carrying a baby who has any of the following conditions:
- Down syndrome (trisomy 21). Down syndrome is a genetic condition that causes lifelong impairments in mental and social development, as well as various physical concerns.
- Edwards syndrome (trisomy 18). Edwards syndrome is a genetic condition that causes severe developmental delays. Edwards syndrome is often fatal by age 1.
- Spina bifida. Spina bifida is a serious birth defect that occurs when the tissue surrounding a baby's developing spinal cord doesn't close properly. Spina bifida can lead to severe physical and mental disabilities.
- Anencephaly. Anencephaly is an underdeveloped brain and an incomplete skull. A baby born with anencephaly might be stillborn or survive only a few hours to days after birth.
Depending on the timing, your health care provider might recommend other prenatal screening tests — such as first trimester screening, which involves a blood test and an ultrasound exam — in addition to the quad screen or in place of the quad screen.
Remember, the quad screen is optional. Test results only indicate whether you have an increased risk of carrying a baby who has Down syndrome, for example, not whether your baby actually has the condition.
Before the screening, think about what the results mean to you. Consider whether the screening will be worth any anxiety it might 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.
- Canick JA, et al. Second trimester maternal serum screening for Down syndrome. http://www.uptodate.com/index. Accessed Aug. 27, 2012.
- Canick JA, et al. Laboratory issues related to maternal serum screening for Down syndrome. http://www.uptodate.com/index. Accessed Aug. 27, 2012.
- Canick JA, et al. First trimester and integrated screening for Down syndrome and trisomy 18. http://www.uptodate.com/index. Accessed Aug. 27, 2012.
- NINDS anencephaly information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm. Accessed Aug. 27, 2012.
- NINDS spina bifida information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.htm. Accessed Aug. 27, 2012.
- Ostermaier KK. Management of Down syndrome. http://www.uptodate.com/index. Accessed Aug. 27, 2012.
- Routine tests in pregnancy. American College of Obstetricians and Gynecologists. http://www.acog.org/~/media/For%20Patients/faq133.pdf?dmc=1&ts=20120827T1517335564. Accessed Aug. 27, 2012.
- Bianchi DW, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics & Gynecology. 2012;119:890.
- Harms RW (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 28, 2012.
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