How is spina bifida diagnosed?
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Spina bifida can be diagnosed either during pregnancy or after birth. The type of test done to detect the disease differs based on when the disease is being diagnosed.
To detect spina bifida before birth, doctors may give an maternal serum test to the expectant mother. This test assesses the amount of AFP in the mother's blood. High levels of AFP can suggest that a birth defect like spina bifida has occurred and further testing is recommended. More diagnostic testing for spina bifida before birth include an detailed ultrasound of the spine or an amniocentesis. The ultrasound is used to visually see a spinal opening while the amniocentesis tests fetal AFP levels in the amniotic fluid around the fetus. After birth, a physical exam, an X-ray, MRI, or CT scan can be used to detect spina bifida in children and adults.
Spina bifida can be diagnosed either during pregnancy or after birth. The type of test done to detect the disease differs based on when the disease is being diagnosed. To detect spina bifida before birth, doctors may give an maternal serum test to... More -
Johns Hopkins Medicine answered:During the first trimester, pregnant women can have a triple screen blood test for spina bifida, Down syndrome, and other congenital diseases in the baby. Most women carrying a baby with spina bifida will have higher-than-normal levels of a protein called maternal alpha fetoprotein (AFP). If the triple screen is positive, further testing is needed to confirm the diagnosis, including ultrasound and amniocentesis.
After birth, a neurologic examination may show that the child has loss of nerve-related functions below the defect. How the infant responds to pinpricks at various locations may reveal where he or she can feel the sensations. Other tests after birth may include X-rays, ultrasound, CT or MRI of the spinal area. Less severe forms of spina bifida may not be diagnosed until later in life.
During the first trimester, pregnant women can have a triple screen blood test for spina bifida, Down syndrome, and other congenital diseases in the baby. Most women carrying a baby with spina bifida will have higher-than-normal levels of a protein... More -
MSAFP: During the second trimester of pregnancy, a maternal serum alpha-fetoprotein (MSAFP) screening should be performed. It is offered between weeks 15 and 20 of pregnancy and is usually part of a set of tests that look for a number of genetic defects. The doctor takes a sample of the mother's blood and looks for a protein called alpha fetoprotein (AFP), which is made by the fetus and placenta. The mother's blood will have a small amount of AFP, but abnormally high levels could indicate a neural tube defect. The test is not specific for spina bifida and is not always accurate. Spina bifida may be present with normal levels of AFP, and high levels of AFP may not always indicate a neural tube defect. High levels may warrant further testing with ultrasound or amniocentesis. Multiple fetuses and gestational age are two additional reasons the AFP may be high.
Ultrasound: In an ultrasound, high frequency waves are used to examine the fetus. Sound waves from a wand-like device will penetrate the mother's stomach and reflect off tissues to form a picture of the fetus. This will help identify if there is more than one fetus and will determine gestational age. An advanced ultrasound is able to detect certain signs of spina bifida, including an open spine or indications of defects in the fetus' brain.
Amniocentesis: The amniotic sac is where the fetus grows. During amniocentesis, the clinician removes samples of amniotic fluid with a needle. This test looks for chromosomal defects, genetic defects, and neural tube defects. Amniocentesis can also be used to detect AFP in the amniotic sac. Like the mother's blood, a small amount of AFP in the amniotic fluid is normal, but if there is a neural tube defect, AFP levels may be elevated. Amniocentesis may present a risk, however, and about one in 200 to one in 500 women may miscarry after the test.
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MSAFP: During the second trimester of pregnancy, a maternal serum alpha-fetoprotein (MSAFP) screening should be performed. It is offered between weeks 15 and 20 of pregnancy and is usually part of a set of tests that look for a number of genetic... More -
UCLA Health answered:In most cases, spina bifida is diagnosed prenatally, or before birth. However, some mild cases may go unnoticed until after birth. Very mild cases may never be detected.
Prenatal DiagnosisThe most common screening methods used to look for spina bifida during pregnancy are second trimester maternal serum alpha fetoprotein (MSAFP) screening and fetal ultrasound. The MSAFP screen measures the level of a protein called alpha-fetoprotein (AFP), which is produced naturally by the fetus and placenta. During pregnancy, a small amount of AFP normally crosses the placenta and enters the mother's bloodstream. However, abnormally high levels of this protein appearing in the mother's bloodstream may indicate that the fetus has a neural tube defect. If a high level of AFP is detected, the doctor may request additional testing, such as an ultrasound or amniocentesis to help determine the cause.
The second trimester MSAFP screen described above may be performed alone or as part of a larger, multiple-marker screen. Multiple-marker screens look not only for neural tube defects, but also for other birth defects, including Down syndrome and other chromosomal abnormalities. First trimester screens for chromosomal abnormalities also exist, but signs of spina bifida are not evident until the second trimester when the MSAFP screening is performed.
Amniocentesis -- an exam in which the doctor removes samples of fluid from the amniotic sac that surrounds the fetus -- may also be used to diagnose spina bifida. Although amniocentesis cannot reveal the severity of spina bifida, the presence of high levels of AFP may indicate that the disorder is present.
Postnatal DiagnosisMild cases of spina bifida not diagnosed during prenatal testing may be detected postnatally by X-rays during a routine examination. Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to get a clearer view of the spine and vertebrae. Individuals with the more severe forms of spina bifida often have muscle weakness in their feet, hips, and legs. If hydrocephalus is suspected, the doctor may request a CT scan and/or X-ray of the skull to look for extra fluid inside the brain.
This answer is based on source information from National Institute of Neurological Disorders and Stroke.In most cases, spina bifida is diagnosed prenatally, or before birth. However, some mild cases may go unnoticed until after birth. Very mild cases may never be detected. Prenatal Diagnosis The most common screening methods used to look for... More
