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The alpha-fetoprotein (AFP) test is a blood test that is performed during pregnancy. This screening test measures the level of AFP in the mother's blood and indicates the probability that the fetus has one of several serious birth defects. The level of AFP can also be determined by analyzing a sample of amniotic fluid. This screening test cannot diagnose a specific condition; it only indicates increased risk for several birth defects. Outside pregnancy, the AFP test is used to detect liver disease, certain cancerous tumors, and to monitor the progress of cancer treatment.
Alpha-fetoprotein is a substance produced by the liver of a fetus. The exact function of this protein is unknown. After birth, the infant's liver stops producing AFP, and an adult liver contains only trace amounts. During pregnancy, the fetus excretes AFP in urine and some of the protein crosses the fetal membranes to enter the mother's blood. The level of AFP can then be determined by analyzing a sample of the mother's blood. By analyzing the amount of AFP found in a blood or amniotic fluid sample, doctors can determine the probability that the fetus is at risk for certain birth defects. It is very important that the doctor know precisely how old the fetus is when the test is performed since the AFP level changes over the length of the pregnancy. Alone, AFP screening cannot diagnose a birth defect. The test is used as an indicator of risk and then an appropriate line of testing (such as amniocentesis or ultrasound) follows, based on the results.
Abnormally high AFP may indicate that the fetus has an increased risk of a neural tube defect, the most common and severe type of disorder associated with increased AFP. These types of defects include spinal column defects (spina bifida) and anencephaly (a severe and usually fatal brain abnormality). If the tube that becomes the brain and spinal cord does not close correctly during fetal development, AFP may leak through this abnormal opening and enter the amniotic fluid. This leakage creates abnormally high levels of AFP in amniotic fluid and in maternal blood. If the screening test indicates abnormally high AFP, ultrasound is used to diagnose the problem.
Other fetal conditions that can raise AFP levels above normal include:
- cysts at the end of the spine
- blockage in the esophagus or intestines
- liver disease causing liver cells to die
- defects in the abdominal wall
- kidney or urinary tract defects or disease
- brittle bone disease
Levels may also be high if there is too little fluid in the amniotic sac around the fetus, more than one developing fetus, or a pregnancy that is farther along than estimated.
For unknown reasons, abnormally low AFP may indicate that the fetus has an increased risk of Down syndrome. Down syndrome is a condition that includes mental retardation and a distinctive physical appearance linked to an abnormality of chromosome 21 (called trisomy 21). If the screening test indicates an abnormally low AFP, amniocentesis is used to diagnose the problem. Abnormally low levels of AFP can also occur when the fetus has died or when the mother is overweight.
AFP is often part of a "triple check" blood test that analyzes three substances as risk indicators of possible birth defects: AFP, estriol, and human chorionic gonadotropin (HCG). When all three substances are measured in the mother's blood, the accuracy of the test results increases.
In 2004, a new study showed that the risk of an infant's death from sudden infant death syndrome (SIDS) increased if levels of AFP were higher during the second trimester of the mother's pregnancy.
Although AFP in human blood gradually disappears after birth, it never disappears entirely. It may reappear in liver disease, or tumors of the liver, ovaries, or testicles. The AFP test is used to screen people at high risk for these conditions. After a cancerous tumor is removed, an AFP test can monitor the progress of treatment. Continued high AFP levels suggest the cancer is growing.
It is very important that the doctor know precisely how old the fetus is when the test is performed since the AFP level considered normal changes over the length of the pregnancy. Errors in determining the age of the fetus lead to errors when interpreting the test results. Since an AFP test is only a screening tool, more specific tests must follow to make an accurate diagnosis. An abnormal test result does not necessarily mean that the fetus has a birth defect. The test has a high rate of abnormal results (either high or low) to prevent missing a fetus that has a serious condition.
The AFP test is usually performed at week 16 of pregnancy. Blood is drawn from the patient's (mother's) vein, usually on the inside of the elbow. AFP can also be measured in the sample of amniotic fluid taken at the time of amniocentesis. Test results are usually available after about one week.
There is no specific physical preparation for the AFP test.
There is no specific aftercare involved with this screening test.
The risks associated with drawing blood are minimal, but may include bleeding from the puncture site, feeling faint or lightheaded after the blood is drawn, or blood accumulating under the puncture site (hematoma).
Amniotic fluid — Fluid within the uterine sac in which the fetus lives until born.
Fetus — The stage in human development from the second month of pregnancy until birth.
Alpha-fetoprotein is measured in nanograms per milliliter (ng/mL) and is expressed as a probability. The probability (1:100, for example) translates into the chance that the fetus has a defect (a one in 100 chance, for example).
When testing for cancer or liver diseases, AFP results are reported as nanograms per milliliter. An AFP level less than or equal to 50 ng/mL is considered normal.
The doctor will inform the woman of her specific increased risk as compared to the "normal" risk of a standard case. If the risk of Down syndrome is greater than the standard risk for women who are 35 years old or older (one in 270), amniocentesis is recommended. Again, the test has a high rate of showing an abnormal AFP level in order to prevent missing a fetus that has Down's syndrome. This screening test only predicts risk; appropriate diagnostic testing will follow after an abnormal screening result.
In tumor or liver disease testing, an AFP level greater than 50 ng/mL is considered abnormal.
Smith, Gordon C.S., et al. "Second-trimester Maternal Serum Levels of Alpha-fetoprotein and the Subsequent Risk of Sudden Infant Death Syndrome." New England Journal of Medicine (September 2, 2004): 978.
March of Dimes Birth Defects Foundation. 1275 Mamaroneck Ave., White Plains, NY 10605. (914) 428-7100. firstname.lastname@example.org. http://www.modimes.org.
National Cancer Institute. Building 31, Room 10A31, 31 Center Drive, MSC 2580, Bethesda, MD 20892-2580. (800) 422-6237. http://www.nci.nih.gov.