Between the 15th and 20th weeks of pregnancy, expectant mothers usually are offered a blood test called the multiple marker test. Sometimes called a triple screen or a quad screen, depending on the number of things measured, it also might be done in combination with blood tests and an ultrasound in the first trimester.
For the multiple marker screening, a sample of blood is drawn from the mother to measure the levels of:
Sometimes the level of inhibin-A, which is made by the placenta, also is measured. The levels of these substances can help doctors identify a fetus at risk for certain birth defects, including neural tube defects (like spina bifida) and some chromosomal abnormalities (like Down syndrome).
In determining the results of the test, doctors take into account factors such as:
These variables can affect the levels of the substances being measured and the interpretation of the test results, so the accuracy of this information is vital. If any of the information is incorrect, the screening results might be inaccurate.
If you have undergone the multiple marker test and received abnormal results, there is no need to worry yet. Just because the test is abnormal doesn't mean that your child has a birth defect or chromosomal abnormality. Rather, an abnormal screen indicates that the fetus should be evaluated further.
Usually, when a pregnant woman's results show high levels of AFP, pointing to a possible risk of spina bifida or another neural tube defect, her doctor will order a detailed ultrasound to examine the fetus, including the fetal skull and spine. In addition, an ultrasound can confirm the age of the fetus and whether the woman is carrying multiples. The doctor also may offer amniocentesis, which is the withdrawal of amniotic fluid from the uterus for further testing.
If a woman's multiple marker screen results reveal low levels of AFP and estriol and high levels of hCG and inhibin-A, she has an increased risk of having a baby with Down syndrome. The next step may be an ultrasound to confirm the baby's due date and to look for any obvious abnormalities. Unfortunately, ultrasound is not a very good test for detecting Down syndrome. For this reason, pregnant women are offered a follow-up test in order to get more information. This may be another screening test that looks at DNA from the fetus in a woman's blood, or amniocentesis so chromosome testing can be done on the fetal cells found in the amniotic fluid.
In general, remember that the multiple marker test is just a screen. It can identify many fetuses that are at risk for certain birth defects, but will not identify them all. A positive screen does not necessarily mean that there is a birth defect, but that there is a need for more evaluation.
If you have any questions or concerns about multiple marker testing, talk to your doctor or seek the advice of a genetic counselor.
Reviewed by: Larissa Hirsch, MD
Date reviewed: October 2013
|National Society of Genetic Counselors This organization represents the genetic counseling profession through research, advocacy, and education.|
|March of Dimes The March of Dimes seeks to prevent birth defects, infant mortality, low birthweight, and lack of prenatal care.|
|American College of Obstetricians and Gynecologists (ACOG) This site offers information on numerous health issues. The women's health section includes readings on pregnancy, labor, delivery, postpartum care, breast health, menopause, contraception, and more.|
|Lab Tests Online This non-commercial site was developed by laboratory professionals to educate caregivers, patients, and patients' families about lab tests.|
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|Birth Defects Birth defects are relatively common. Some are minor and cause no problems; others cause major disabilities. Learn about the different types of birth defects, and how to help prevent them.|
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|Pregnancy & Newborn Center Advice and information for expectant and new parents.|
|Down Syndrome Down syndrome is a condition in which extra genetic material causes delays in the way a child develops, both physically and mentally.|
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