Tests and diagnosisBy Mayo Clinic staff
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If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and other birth defects. The tests aren't perfect. Most mothers who have positive blood tests have normal babies. Also, even if the results are negative, there's still a small chance that spina bifida is present. Talk to your doctor about prenatal testing, its risks and how you might handle the results.
Your doctor will most likely check for spina bifida by first performing the following:
Maternal serum alpha-fetoprotein (MSAFP) test. A common test used to check for myelomeningocele is the maternal serum alpha-fetoprotein (MSAFP) test. To perform this test, your doctor draws a blood sample and sends it to a laboratory, where it's tested for alpha-fetoprotein (AFP) — a protein that's produced by the baby. It's normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream, but abnormally high levels of AFP suggest that the baby has a neural tube defect, most commonly spina bifida or anencephaly, a condition characterized by an underdeveloped brain and an incomplete skull.
Some spina bifida cases don't produce a high level of AFP. On the other hand, when a high level of AFP is found, a neural tube defect is present only a small percentage of the time. Varying levels of AFP can be caused by other factors — including a miscalculation in fetal age or multiple babies — so your doctor may order a follow-up blood test for confirmation. If the results are still high, you'll need further evaluation, including an ultrasound examination.
- Other blood tests. Your doctor may perform the MSAFP test with two or three other blood tests, which may detect other hormones, such as human chorionic gonadotropin (HCG), inhibin A and estriol. Depending on the number of tests, the combination is called a triple screen or quadruple screen (quad screen). These tests are commonly done with the MSAFP test, but their objective is to screen for trisomy 21 (Down syndrome), not neural tube defects.
Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The most common ultrasound exams bounce high-frequency sound waves off tissues in your body to form black-and-white images on a video monitor.
The information these images provide can help establish whether there's more than one baby and can help confirm gestational age, two factors that can affect AFP levels. An advanced ultrasound can also detect signs of spina bifida, such as an open spine or particular features in your baby's brain that indicate spina bifida.
In expert hands, ultrasound today is quite effective in detecting spina bifida and assessing its severity. Ultrasound is safe for both mother and baby.
If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the baby. An analysis indicates the level of AFP present in the amniotic fluid.
A small amount of AFP is normally found in amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac. A second test can be done on the same sample to reliably confirm that a neural tube defect is present.
Discuss the risks of this test, including a slight risk of loss of the pregnancy, with your doctor.
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