Materiały źródłowe

• #1 Spina bifida | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/spina-bifida?content_id=CON-20377839

  Tests before the birth of a baby, known as prenatal screening, can check for spina bifida and other conditions. The tests aren’t perfect. Some people who have positive blood tests have babies without spina bifida. Even if the results are negative, there’s still a small chance that spina bifida is present. Talk with your healthcare professional about prenatal testing, its risks and what the results mean. […] Spina bifida can be screened with blood tests during pregnancy, but typically the diagnosis is made with an ultrasound exam. […] An ultrasound is the most accurate way to diagnose spina bifida in your baby before delivery. During pregnancy, an ultrasound may be done in the first 11 to 14 weeks of pregnancy, known as the first trimester. Or it may be done at 18 to 22 weeks, known as the second trimester. Spina bifida can be more accurately diagnosed during the second trimester ultrasound exam. This exam is crucial to identify and rule out conditions that may be present at birth.

• #1 Spina Bifida | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/spina-bifida

  In the U.S., most cases of spina bifida are diagnosed prenatally, meaning before the baby is born. Some mild cases might not be found until after birth. Very mild forms of spina bifida may go unnoticed, or a doctor may only find them during tests for other conditions. […] There are a few ways to check for spina bifida during pregnancy. One is maternal serum alpha fetoprotein (MSAFP) screening. This is a blood sample test that shows the levels of a protein called alpha-fetoprotein (AFP) made by the fetus. A person who is 16 to 18 weeks pregnant can get this test. High levels of this protein may show that the fetus has spina bifida or another neural tube defect, but more tests may be needed for confirmation. This test may be performed alone or as part of a larger screening for birth defects.

• #1 Spina Bifida: Types, Tests, Treatment & Prevention

  https://my.clevelandclinic.org/health/diseases/8719-spina-bifida

  Spina bifida can usually be detected in the fetus, but not always. These tests include: […] A blood test: Taken during the 16th to 18th week of pregnancy, this screening tests the amount of AFP (alpha-fetoprotein) in the blood. The amount is higher in about 75% to 80% in women who carry a fetus with spina bifida. […] An ultrasound (sonogram): Problems with the fetus’s spine may be spotted through imaging. […] Amniocentesis: Fluid from the uterus is removed through a tube to test for protein levels. […] Because it involves nerve damage, more serious types of spina bifida cannot be cured. Children with more severe cases of spina bifida need to learn mobility skills and need training to learn to manage their bowel and bladder functions. Some may require catheterization to permit the passage of urine. […] Surgery, physiotherapy and medication are used to treat some of the effects of spina bifida and may be needed throughout a patient’s life to prevent and manage certain complications.

• #1 Spina bifida: Symptoms, causes, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/220424

  A routine ultrasound scan detects most cases of spina bifida during pregnancy. Various prenatal tests are also available, but they are not 100% accurate. […] This is a blood test that assesses for alpha-fetoprotein (AFP), a protein that the fetus produces. […] If AFP levels are high, the doctor will order another blood test. If they are still high, the doctor will recommend further tests to identify the reason. […] Other tests during pregnancy are the triple screen or quadruple (quad) screen. These test for three or four substances in the blood. […] If the ultrasound scan is normal but AFP levels are high, the doctor may recommend amniocentesis. A sample of fluid is removed from the amniotic sac and tested for AFP levels. If the fetus has a neural tube defect, there will be will high levels of AFP in the amniotic fluid that surrounds them.

• #1 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/spine/open-spina-bifida

  Open spina bifida is associated with the Arnold-Chiari II malformation with caudal displacement of the brain stem and obliteration of the cisterna magna. […] Diagnosis of spina bifida requires the systematic examination of each neural arch, from the cervical to the sacral region, both transversely and longitudinally. In the transverse scan, the normal neural arch appears as a closed circle with an intact skin covering, whereas in spina bifida the arch is U-shaped and there is an associated bulging meningocele (thin-walled cyst) or myelomeningocele. The extent of the defect and any associated kyphoscoliosis are best assessed in the sagittal scan. […] Detailed ultrasound examination. […] Follow-up scans every 4 weeks to monitor evolution of ventriculomegaly, possible kyphoscoliosis and development of talipes.

• #1 A Guide to Spina Bifida For Expectant and New Parents – Spina Bifida Associationheaderheader-color

  https://www.spinabifidaassociation.org/resource/expectant-parents/

  This resource contains information for parents who have received a diagnosis or parents who have recently had a baby with Spina Bifida. […] Most diagnoses are made by community obstetricians or maternal-fetal medicine specialists. But you’ll need to see a Spina Bifida expert such as a pediatric neurosurgeon or visit a fetal center at a children’s hospital to learn as much as possible about your baby’s prognosis (how he or she will be affected) and the best options for your baby and family. […] A routine Maternal Serum Alpha-Fetoprotein (AFP) blood test performed between the 15th-20th weeks of pregnancy can show a greater possibility of neural tube defects such as Spina Bifida. […] Diagnosis is usually made during an ultrasound with spine markers such as missing vertebrae (back bones) or pieces of vertebrae; and/or brain markers such as ventriculomegaly (enlarged ventricles), a specific fetal skull shape (the “lemon sign”), and crowding of the cerebellum (the “banana sign”).

• #1 Spina bifida | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/spina-bifida?content_id=CON-20377839

  If the prenatal ultrasound confirms the diagnosis of spina bifida, your healthcare professional may request a test called amniocentesis. During this test, a needle is used to remove a sample of fluid from the amniotic sac that surrounds the baby. This exam may be important to rule out genetic diseases.

• #1 Screening for Spina Bifida in Children | NYU Langone Health

  https://nyulangone.org/conditions/spina-bifida-in-children/screening

  Doctors at Hassenfeld Childrens Hospital at NYU Langone confirm a spina bifida diagnosis after a baby is born. […] An ultrasound does not provide enough detail to confirm the severity of spina bifida, but it can confirm the diagnosis when used in combination with blood tests and amniocentesis. […] When screening tests such as blood tests, amniocentesis, and ultrasound suggest spina bifida, most women then have an MRI scan of the unborn baby. The MRI can identify the type of spina bifida as well as evaluate the brain for possible hydrocephalus or a Chiari malformation.

• #1 Spina Bifida | Brown University Health

  https://www.brownhealth.org/centers-services/fetal-treatment-program-new-england/conditions-we-treat/spina-bifida

  How Is Spina Bifida Diagnosed? The brain and spinal cord are surrounded by cerebrospinal fluid (CSF). In spina bifida, CSF leaks into the amniotic fluid through the opening in the spine. This increases the concentration of fetal proteins in the amniotic fluid, especially alpha-fetoprotein (AFP). High levels of AFP can be detected through amniocentesis, a common procedure in which a fine needle is inserted through the mother’s abdominal wall and uterus to extract a small amount of amniotic fluid. […] Elevated levels of the protein (known as maternal serum alpha-fetoprotein) can suggest the presence of spina bifida, but can also indicate other fetal conditions. When a pregnant woman’s AFP level is elevated, she will be referred for an ultrasound to help diagnose spina bifida or other causes of the increased AFP levels. […] If spina bifida is suspected on ultrasound, magnetic resonance imaging (MRI) may be ordered to confirm the findings and help determine severity. MRI is painless and free of radiation, and does not affect the developing fetus.

• #1 How do healthcare providers diagnose spina bifida? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/diagnose

  Sometimes spina bifida is discovered only after the infant is born, especially if the mother did not have prenatal tests or if the ultrasound could not give a clear picture of the spine. […] A doctor can examine the infant’s spine and bones in the back using an image scan such as an X-ray, MRI, or CT.

• #1 Diagnosing Spina Bifida in Children | NYU Langone Health

  https://nyulangone.org/conditions/spina-bifida-in-children/diagnosis

  Most of the time, spina bifida is diagnosed before a baby is born during prenatal screenings that are a standard part of prenatal care. […] If necessary, our team of experts can provide immediate care. […] To diagnose spina bifida, the doctor performs a physical exam and orders imaging tests. […] Immediately after birth, a doctor carefully examines your baby for signs of spina bifida, such as tissue that protrudes through an opening in the spine. […] Doctors may also perform nerve conduction tests to determine whether the condition has affected sensation in various parts of the body. […] A doctor often recommends an MRI scan to assess the severity of spinal cord damage caused by spina bifida and determine whether your child has hydrocephalus. […] A doctor may order a CT scan to obtain more detailed images of a baby’s brain, spine, and other bones and joints.

• #1 About Spina Bifida | Spina Bifida | CDC

  https://www.cdc.gov/spina-bifida/about/index.html

  Spina bifida can be diagnosed during pregnancy or after the baby is born. Spina bifida occulta might not be diagnosed until late childhood or adulthood or might never be diagnosed. […] During pregnancy, there are screening tests (prenatal tests) to check for spina bifida and other birth defects. For example, an AFP (alpha-fetoprotein) test might be part of a test called the quad screen. A high level of AFP might mean that a baby has spina bifida. Frequently, spina bifida can be seen with an ultrasound, which is a type of picture of the baby. […] In some cases, spina bifida might not be diagnosed until after the baby is born. Sometimes there is a hairy patch of skin or a dimple on the back that is seen after birth. A doctor can use an image scan, such as an X-ray, to get a clearer view of the baby’s spine.

• #1 Spina Bifida Occulta Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/spina-bifida-occulta

  Sometimes, spina bifida occulta is indicated by a visible sign on the skin directly over the defect. Examples include a patch of thick hair, a growth, an unusual pigment, an extremely large dimple, or a pad of fat. […] Otherwise, spina bifida occulta is usually an incidental finding, or condition found when examining a patient for a separate reason. X-rays, which use invisible electromagnetic energy to project images of the bodys structures onto film, can reveal the structural malformation of spina bifida occulta. […] If neurological symptoms like those associated with tethered cord are present, a magnetic resonance (MR) imaging scan may be ordered. MR scans use radio waves and a magnet to produce images of organs and other tissues. They are especially useful for examining the spinal cord.

• #1 Spina Bifida Workup: Approach Considerations, Urine Studies, Alpha-Fetoprotein and Acetylcholinesterase

  https://emedicine.medscape.com/article/311113-workup

  Gait analysis has been introduced to evaluate patients functionally. […] Some centers use fetal ultrasonography as the primary screening tool for neural tube defects, usually at approximately 18 weeks gestational age. […] The combination of maternal serum AFP screening with second-trimester ultrasonographic screening detects over 90% of neural tube defects from 20 weeks’ gestation. […] Currently, ultrasonography is not sensitive enough to provide reliable and accurate detection of the level of the defect. […] Hydrocephalus can be tracked with serial cranial ultrasonograms (in infants) or computed tomography (CT) scans. […] Magnetic resonance imaging (MRI) of the spine and brain is helpful in neurologic assessment and provides a baseline for comparison in future investigations, especially in the context of progressive neurologic deterioration. […] Radiographs of the vertebrae provide information for early evaluation when an infant is born with myelomeningocele.

• #1 Diagnosing Spina Bifida in Children | NYU Langone Health

  https://nyulangone.org/conditions/spina-bifida-in-children/diagnosis

  In order to determine if this is so, a doctor performs tests to obtain information about how well these nerves function. […] A day or two after birth, a doctor performs a renal sonogram, which uses sound waves to visualize a baby’s kidneys and bladder. […] Typically, a urine sample is tested in a laboratory to be sure there is no urinary tract infection. […] Urine testing is repeated every three to four months during infancy.

• #1 Spina Bifida Workup: Approach Considerations, Urine Studies, Alpha-Fetoprotein and Acetylcholinesterase

  https://emedicine.medscape.com/article/311113-workup

  Perform urinalysis, urine culture, and a serum urea nitrogen creatinine test at birth to evaluate renal function in neonates with spina bifida. […] Early accurate assessment and subsequent frequent reassessments of neurologic status are necessary with anatomic and physiologic evaluation techniques. […] Estimation of maternal serum AFP has been used since the late 1970s. Blood samples are taken early in the second trimester. The AFP level is elevated in 70-75% of cases in which the fetus has an open spina bifida. […] Since many possible reasons exist for false-positive results, a presumptive diagnosis based on maternal serum AFP is confirmed with amniocentesis and assay of the amniotic fluid for AFP, as well as for the presence of acetylcholinesterase, a nerve-specific enzyme. […] Psychometric assessments of intelligence and cognitive function are indicated for patients with hydrocephalus and for patients who display deficits in speech and language functions and/or cognitive or academic skills.

• #1 How do healthcare providers diagnose spina bifida? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/diagnose

  Doctors diagnose spina bifida before or after the infant is born. Spina bifida occulta might not be identified until late childhood or adulthood, or it might not be identified at all. […] Screening tests can check for spina bifida and other congenital anomalies. […] A triple screen examines blood in several ways to look for neural tube defects, such as spina bifida, and other issues. One of these tests measures AFP, or alpha-fetoprotein, which the fetus produces. A high AFP level might mean that the child has spina bifida. […] The doctor uses a long needle to obtain some of the amniotic fluid surrounding the fetus in the womb. The fluid can be tested for high levels of AFP, which can mean that the fetus has spina bifida. […] Often, spina bifida can be identified through ultrasound.

• #1 Spina Bifida in Adults: Diagnosis, Symptoms, Treatment, Outlook

  https://www.healthline.com/health/spina-bifida-in-adults

  Spina bifida is typically diagnosed during pregnancy or immediately after birth. But a mild form of spina bifida, which rarely causes symptoms, can go unnoticed until adulthood. […] Healthcare professionals commonly diagnose it during pregnancy. But a mild form of spina bifida, called spina bifida occulta, may go unnoticed until adulthood. […] Typically, doctors spot this type of spina bifida after an adolescent growth spurt. The growth spurt stretches the spine and exposes the small gap. […] Healthcare professionals often diagnose spina bifida during the mid-pregnancy scan. They typically run this test between the 18th and 21st week of pregnancy. Sometimes, doctors diagnose spina bifida after birth. […] But, because spina bifida occulta doesnt cause a sac to push out of the spine or symptoms, further delays in diagnosis are common.

• #1 Spina Bifida in Adults: Diagnosis, Symptoms, Treatment, Outlook

  https://www.healthline.com/health/spina-bifida-in-adults

  Spina bifida occulta rarely causes symptoms. When it does, symptoms in adolescents and adults can include: […] Treatment for spina bifida occulta depends on symptoms. People without symptoms often dont dont need any treatment. When symptoms do occur, treatment will focus on relieving them. […] Surgery might be the best treatment option for some adults with spina bifida occulta. […] Healthcare professionals sometimes diagnose it in adults and adolescents as a result of spina bifida occulta. Surgery can release the tension in the spinal cord and relieve symptoms. […] Spina bifida is a chronic condition and theres currently no cure. But when spina bifida isnt diagnosed until adulthood, its generally because its very mild with minimal symptoms. […] Healthcare professionals commonly diagnose spina bifida during pregnancy or immediately after birth. But the mild form of spina bifida, spina bifida occulta, can go unnoticed until adulthood.

• #1 Spina Bifida Differential Diagnoses

  https://emedicine.medscape.com/article/311113-differential

  Meningocele and myelomeningocele must be differentiated. Meningocele is the herniated protrusion of only the meninges through a defect in the cranium or vertebral column. This lesion does not contain neural tissue in the sac. […] Spina bifida occulta is a common radiographic finding characterized by simple lack of fusion of vertebral spinous processes. The spinal cord itself is normal. […] As previously mentioned, the diagnosis of tethered cord syndrome is confirmed on the basis of clinical signs and symptoms, which can include pain, sensory changes, spasticity, and progressive scoliosis. […] However, uncontrolled hydrocephalus and Chiari II malformation must be excluded as causes of these symptoms. Moreover, symptoms similar to those of tethered cord syndrome can also be caused by other intraspinal pathologies, such as the following: Mass lesions of the cord, Diastematomyelia, Cord cavitation and narrowing, Adhesions, Dural bands.

• #1 Spina bifida – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/spina-bifida/symptoms-causes/syc-20377860

  Typically, myelomeningocele is diagnosed before or right after birth, when medical care is available. […] Children diagnosed with this condition should be followed by a specialized team of healthcare professionals throughout their lives. Families can be educated on the different complications to watch for. […] Children with spina bifida occulta typically don’t have symptoms or complications. In these children, usually only routine pediatric care is needed.

• #1 Spina Bifida – AANS

  https://www.aans.org/patients/conditions-treatments/spina-bifida/

  The defect is most often detected on maternal screening tests and/or ultrasound of the fetus. […] When this type of defect is detected, parents should seek out a multi-disciplinary team of specialists, including a pediatric neurosurgeon, to understand the condition and prognosis as well as to make an informed decision on the course of the pregnancy, possible further fetal testing, type of delivery and consideration of fetal surgery. […] Testing Diagnosis […] Maternal serum alpha-fetoprotein test (Physican may order follow-up tests for confirmation including amniocentesis) […] 20-week ultrasound […] Infant ultrasound […] Fetal MRI.

• #1 Partners in Care | Spina bifida is treated in the Comprehensive Fetal…

  https://partnersincare.health/conditions/spina-bifida

  After the initial ultrasound evaluation, you will likely be scheduled for fetal magnetic resonance imaging (MRI). A fetal MRI is similar to a CT scan but does not involve X-rays or radiation. […] You will likely need ultrasounds every 3 to 4 weeks to monitor the amount of fluid in the ventricles in your babys head. […] After birth, your baby’s back will be wrapped in a sterile wet towel and they will be transported to the neonatal intensive care unit (NICU). Your baby will likely undergo an ultrasound of the head after birth. A repeat MRI may also be needed, and your baby will likely be seen by both a pediatric neurologist and a pediatric neurosurgeon. Surgery may be performed within the first 24 hours after birth to repair the spina bifida.

• #1

• #1 Where to Start When You Learn Your Unborn Baby Has Spina Bifida | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/where-start-when-you-learn-your-unborn-baby-has-spina-bifida

  Getting a spina bifida diagnosis during pregnancy or finding out anything is wrong with your baby can be devastating. […] An experienced team at a specialized fetal diagnosis and treatment center can add greater precision to the diagnosis, determine the severity of the condition, and offer a range of treatment options, including prenatal treatment. Fetal surgery for myelomeningocele, the most severe form of spina bifida, is shown to offer significantly better results than traditional repair after birth. […] Children born with spina bifida require lifelong follow-up care from a multidisciplinary team. […] There is no cure for the condition, but with advances in prenatal (before birth) and postnatal (after birth) treatments, the quality of life for children with spina bifida has changed dramatically over the past 50 years.

• #1 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/spine/open-spina-bifida

  In utero closure of spina bifida (open surgery requiring hysterotomy or by fetoscopy), reduces the need for postnatal shunt placement and may improve motor and urologic function. […] Standard obstetric care and delivery. There is no evidence that delivery by cesarean section reduces handicap. […] The 5-year mortality rate is about 35%, with 20% dying during the first 12 months of life. About 25% of fetuses with spina bifida are stillborn. […] Affected parent or one sibling: 5%. […] Supplementation of the maternal diet with folate (5 mg/day) for 3 months before and 2 months after conception reduces the risk of recurrence by about 75%.

• #1 Spina bifida | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/spina-bifida

  Approximately 90 per cent of cases of spina bifida are detected with an ultrasound scan before 18 weeks of pregnancy. […] Other tests used to diagnose spina bifida are maternal blood tests which measure alpha-fetoprotein (AFP), and magnetic resonance imaging (MRI) scans. […] Most cases of spina bifida are detected before birth. […] In open spina bifida where the cord and nerves are exposed (called spina bifida aperta), it is important to close the defect within the first few days of life to avoid infection, excess drainage of cerebrospinal fluid and further damage to the spinal cord and nerves. […] Occasionally, spina bifida is not detected until birth when a large soft lump or skin covered lesion on the baby’s back is noticed.

• #2 Diagnosing Spina Bifida in Children | NYU Langone Health

  https://nyulangone.org/conditions/spina-bifida-in-children/diagnosis

  Most of the time, spina bifida is diagnosed before a baby is born during prenatal screenings that are a standard part of prenatal care. […] If necessary, our team of experts can provide immediate care. […] To diagnose spina bifida, the doctor performs a physical exam and orders imaging tests. […] Immediately after birth, a doctor carefully examines your baby for signs of spina bifida, such as tissue that protrudes through an opening in the spine. […] Doctors may also perform nerve conduction tests to determine whether the condition has affected sensation in various parts of the body. […] A doctor often recommends an MRI scan to assess the severity of spinal cord damage caused by spina bifida and determine whether your child has hydrocephalus. […] A doctor may order a CT scan to obtain more detailed images of a baby’s brain, spine, and other bones and joints.

• #2 About Spina Bifida | Spina Bifida | CDC

  https://www.cdc.gov/spina-bifida/about/index.html

  Spina bifida can be diagnosed during pregnancy or after the baby is born. Spina bifida occulta might not be diagnosed until late childhood or adulthood or might never be diagnosed. […] During pregnancy, there are screening tests (prenatal tests) to check for spina bifida and other birth defects. For example, an AFP (alpha-fetoprotein) test might be part of a test called the quad screen. A high level of AFP might mean that a baby has spina bifida. Frequently, spina bifida can be seen with an ultrasound, which is a type of picture of the baby. […] In some cases, spina bifida might not be diagnosed until after the baby is born. Sometimes there is a hairy patch of skin or a dimple on the back that is seen after birth. A doctor can use an image scan, such as an X-ray, to get a clearer view of the baby’s spine.

• #2 How do healthcare providers diagnose spina bifida? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/spinabifida/conditioninfo/diagnose

  Doctors diagnose spina bifida before or after the infant is born. Spina bifida occulta might not be identified until late childhood or adulthood, or it might not be identified at all. […] Screening tests can check for spina bifida and other congenital anomalies. […] A triple screen examines blood in several ways to look for neural tube defects, such as spina bifida, and other issues. One of these tests measures AFP, or alpha-fetoprotein, which the fetus produces. A high AFP level might mean that the child has spina bifida. […] The doctor uses a long needle to obtain some of the amniotic fluid surrounding the fetus in the womb. The fluid can be tested for high levels of AFP, which can mean that the fetus has spina bifida. […] Often, spina bifida can be identified through ultrasound.

• #2 Spina Bifida | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/spina-bifida

  In the U.S., most cases of spina bifida are diagnosed prenatally, meaning before the baby is born. Some mild cases might not be found until after birth. Very mild forms of spina bifida may go unnoticed, or a doctor may only find them during tests for other conditions. […] There are a few ways to check for spina bifida during pregnancy. One is maternal serum alpha fetoprotein (MSAFP) screening. This is a blood sample test that shows the levels of a protein called alpha-fetoprotein (AFP) made by the fetus. A person who is 16 to 18 weeks pregnant can get this test. High levels of this protein may show that the fetus has spina bifida or another neural tube defect, but more tests may be needed for confirmation. This test may be performed alone or as part of a larger screening for birth defects.

• #2 Spina Bifida: Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/spina-bifida/treatment

  When is Spina Bifida Diagnosed? Diagnosis […] Pregnant women are routinely offered prenatal screening tests to check for disorders like spina bifida. The most accurate way to diagnose spina bifida is by ultrasound testing. […] Ultrasound imaging is performed during the first trimester of pregnancy (11-14 weeks) and then again during the second trimester (18-22 weeks). An accurate detection of spina bifida can usually be made during the second trimester. […] If spina bifida is confirmed from the ultrasound, your doctor may request an amniocentesis.

• #2 Spina bifida | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/spina-bifida?lang=us

  There are many ways of classifying a spina bifida. One method is according to the extent of the defect and is as follows: spina bifida aperta/spina bifida operta: defect can be open or closed (commoner). […] Ultrasound generally has a high detection rate for spina bifida and may show dorsal ossification centers / lateral pedicles as being splayed apart (which can give a V-shaped appearance to the posterior elements). […] The overall prognosis is variable depending on the type and extent. For an isolated spina bifida, the recurrence risk range for future pregnancies is thought to be around 0.3-5%. Maternal intake of folic acid in subsequent pregnancies may again reduce the risk significantly.

• #2 Partners in Care | Spina bifida is treated in the Comprehensive Fetal…

  https://partnersincare.health/conditions/spina-bifida

  A pregnant mother typically has a screening during the second trimester that involves a blood test known as an alpha-fetoprotein (AFP) test. If the test reveals high levels of alpha-fetoprotein, the mothers developing baby could have a neural tube defect, such as spina bifida, and an ultrasound is scheduled to confirm the diagnosis. […] Most cases of spina bifida are diagnosed at the time of a routine anatomy ultrasound at around 20 weeks (5 months) of gestation. At the time of the ultrasound, a fetus with spina bifida will appear to have a lemon-shaped head. […] Additionally, the structure in the back of the brain (the cerebellum) will be pulled backward in a banana sign, which indicates a Chiari II malformation (a defect of the spine in which some portion of the brain stem and its surrounding tissue descends into the cervical spine). More careful ultrasound of the lower part of the spine will often detect a protruding sac if a myelomeningocele is present.

• #2 Spina Bifida: Types, Tests, Treatment & Prevention

  https://my.clevelandclinic.org/health/diseases/8719-spina-bifida

  Spina bifida can usually be detected in the fetus, but not always. These tests include: […] A blood test: Taken during the 16th to 18th week of pregnancy, this screening tests the amount of AFP (alpha-fetoprotein) in the blood. The amount is higher in about 75% to 80% in women who carry a fetus with spina bifida. […] An ultrasound (sonogram): Problems with the fetus’s spine may be spotted through imaging. […] Amniocentesis: Fluid from the uterus is removed through a tube to test for protein levels. […] Because it involves nerve damage, more serious types of spina bifida cannot be cured. Children with more severe cases of spina bifida need to learn mobility skills and need training to learn to manage their bowel and bladder functions. Some may require catheterization to permit the passage of urine. […] Surgery, physiotherapy and medication are used to treat some of the effects of spina bifida and may be needed throughout a patient’s life to prevent and manage certain complications.

• #2 Spina Bifida: Types, Causes, Symptoms, Prevention, Diagnosis, Treatment & Complications

  https://ghealth121.com/treatments/spina-bifida/

  If the prenatal ultrasound confirms the diagnosis of spina bifida, your doctor might request amniocentesis. During this process, your doctor removes a sample of fluid from the amniotic sac surrounding the baby using a needle. The purpose of this examination is to rule out genetic diseases, even though spina bifida is rarely associated with genetic diseases.

• #2 A Guide to Spina Bifida For Expectant and New Parents – Spina Bifida Associationheaderheader-color

  https://www.spinabifidaassociation.org/resource/expectant-parents/

  Sometimes doctors do an amniocentesis test, which takes a small amount of fluid from around the baby in the uterus. The fluid is tested to see if it contains cerebrospinal fluid (CSF), which is the liquid that surrounds the baby’s brain and spine. If it does, that tells us the baby’s back is “open” instead of covered by skin. […] A fetal MRI may be used to better see the size, location, and details of the lesion.

• #2 Spina Bifida | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/spina-bifida

  A doctor may also do an ultrasound, which uses sound waves to create images of the developing baby. Ultrasounds can accurately detect spina bifida, especially during the second trimester (around 18-22 weeks). […] A doctor may also do amniocentesis. This uses a sample of the amniotic fluid around the fetus to test for protein levels that may indicate neural tube defects or genetic disorders. […] Closed neural tube defects are often found at birth when the baby has a visible buildup of fatty tissue (a bubble), a tuft or clump of hair, or a small dimple or birthmark on the skin where the spine is affected. Spina bifida occulta is usually found when a person gets x-rays for another reason later in life. […] Sometimes, regular prenatal tests do not find myelomeningocele and meningocele. The baby will be diagnosed when they are born with a bubble on its back. Babies with myelomeningocele and closed neural tube defects may have muscle weakness in their feet, hips, and legs. Mild cases of spina bifida (occulta and some forms of closed neural tube defects) that are not diagnosed during prenatal testing may be found after the baby is born using ultrasound or x-ray of their spine. […] Doctors may use MRI (magnetic resonance imaging) or a CT (computed tomography) to get a clearer view of the spinal cord and vertebrae. A doctor may request a head ultrasound, CT, or MRI to look for hydrocephalus.

• #2 Spina Bifida Occulta Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/spina-bifida-occulta

  Sometimes, spina bifida occulta is indicated by a visible sign on the skin directly over the defect. Examples include a patch of thick hair, a growth, an unusual pigment, an extremely large dimple, or a pad of fat. […] Otherwise, spina bifida occulta is usually an incidental finding, or condition found when examining a patient for a separate reason. X-rays, which use invisible electromagnetic energy to project images of the bodys structures onto film, can reveal the structural malformation of spina bifida occulta. […] If neurological symptoms like those associated with tethered cord are present, a magnetic resonance (MR) imaging scan may be ordered. MR scans use radio waves and a magnet to produce images of organs and other tissues. They are especially useful for examining the spinal cord.

• #2 Spina Bifida Occulta (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/spina-bifida-occulta.html

  Spina bifida occulta usually doesn’t cause symptoms. So, it’s often found when an X-ray or other imaging study of the spine is done for a different reason. […] Sometimes spina bifida is diagnosed with an ultrasound after a doctor sees a dimple, patch of hair, or red patch at the base of a baby’s spine.

• #2 Spina Bifida | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/spina-bifida

  In some cases, spina bifida may be diagnosed before birth with an alpha-fetoprotein (AFP) blood test or through imaging tests such as prenatal ultrasound or magnetic resonance imaging (MRI). […] When spina bifida is suspected in babies or older children, it may be diagnosed using a spinal ultrasound or MRI.

• #2 Spina Bifida Workup: Approach Considerations, Urine Studies, Alpha-Fetoprotein and Acetylcholinesterase

  https://emedicine.medscape.com/article/311113-workup

  Laboratory screening tests for neural tube defects can be performed through blood tests, amniocentesis, or both. These typically are used in combination with fetal ultrasonography. Prenatal diagnosis and ultrasonographic confirmation allow for preparation and parental referral to appropriate care services. […] The fetal presence of an open neural tube defect is marked by an elevated alpha-fetoprotein (AFP) level in the amniotic fluid. Peak concentrations of AFP in the 13th to 15th weeks of pregnancy permit diagnosis, and ultrasonographic confirmation with amniocentesis generally is possible at 15-18 weeks. […] In children with spina bifida, in addition to routine laboratory screening examination, testing would include levels of anticonvulsants, urine cultures, and perhaps cystometrograms and skin testing for latex sensitivity.

• #2 Spina Bifida in Adults: Diagnosis, Symptoms, Treatment, Outlook

  https://www.healthline.com/health/spina-bifida-in-adults

  Spina bifida is typically diagnosed during pregnancy or immediately after birth. But a mild form of spina bifida, which rarely causes symptoms, can go unnoticed until adulthood. […] Healthcare professionals commonly diagnose it during pregnancy. But a mild form of spina bifida, called spina bifida occulta, may go unnoticed until adulthood. […] Typically, doctors spot this type of spina bifida after an adolescent growth spurt. The growth spurt stretches the spine and exposes the small gap. […] Healthcare professionals often diagnose spina bifida during the mid-pregnancy scan. They typically run this test between the 18th and 21st week of pregnancy. Sometimes, doctors diagnose spina bifida after birth. […] But, because spina bifida occulta doesnt cause a sac to push out of the spine or symptoms, further delays in diagnosis are common.

• #2 Spina Bifida in Adults: Diagnosis, Symptoms, Treatment, Outlook

  https://www.healthline.com/health/spina-bifida-in-adults

  Spina bifida occulta rarely causes symptoms. When it does, symptoms in adolescents and adults can include: […] Treatment for spina bifida occulta depends on symptoms. People without symptoms often dont dont need any treatment. When symptoms do occur, treatment will focus on relieving them. […] Surgery might be the best treatment option for some adults with spina bifida occulta. […] Healthcare professionals sometimes diagnose it in adults and adolescents as a result of spina bifida occulta. Surgery can release the tension in the spinal cord and relieve symptoms. […] Spina bifida is a chronic condition and theres currently no cure. But when spina bifida isnt diagnosed until adulthood, its generally because its very mild with minimal symptoms. […] Healthcare professionals commonly diagnose spina bifida during pregnancy or immediately after birth. But the mild form of spina bifida, spina bifida occulta, can go unnoticed until adulthood.

• #2 Spina Bifida Differential Diagnoses

  https://emedicine.medscape.com/article/311113-differential

  Meningocele and myelomeningocele must be differentiated. Meningocele is the herniated protrusion of only the meninges through a defect in the cranium or vertebral column. This lesion does not contain neural tissue in the sac. […] Spina bifida occulta is a common radiographic finding characterized by simple lack of fusion of vertebral spinous processes. The spinal cord itself is normal. […] As previously mentioned, the diagnosis of tethered cord syndrome is confirmed on the basis of clinical signs and symptoms, which can include pain, sensory changes, spasticity, and progressive scoliosis. […] However, uncontrolled hydrocephalus and Chiari II malformation must be excluded as causes of these symptoms. Moreover, symptoms similar to those of tethered cord syndrome can also be caused by other intraspinal pathologies, such as the following: Mass lesions of the cord, Diastematomyelia, Cord cavitation and narrowing, Adhesions, Dural bands.

• #2 Spina bifida and neural tube defects – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/1161

  Spina bifida and neural tube defects result from abnormal neurulation during the first 4 weeks of embryogenesis. […] Most neural tube defects are detected antenatally on ultrasound or clinically at birth. […] A multi-disciplinary approach to care is important across the lifespan. […] Key diagnostic factors include maternal risk factors for child with spina bifida, history of elevated triple or quadruple screening test during antenatal assessment, and history of abnormality on antenatal ultrasound. […] 1st investigations to order include antenatal triple/quadruple test, antenatal ultrasound, and fetal MRI.

• #2 Where to Start When You Learn Your Unborn Baby Has Spina Bifida | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/where-start-when-you-learn-your-unborn-baby-has-spina-bifida

  Getting a spina bifida diagnosis during pregnancy or finding out anything is wrong with your baby can be devastating. […] An experienced team at a specialized fetal diagnosis and treatment center can add greater precision to the diagnosis, determine the severity of the condition, and offer a range of treatment options, including prenatal treatment. Fetal surgery for myelomeningocele, the most severe form of spina bifida, is shown to offer significantly better results than traditional repair after birth. […] Children born with spina bifida require lifelong follow-up care from a multidisciplinary team. […] There is no cure for the condition, but with advances in prenatal (before birth) and postnatal (after birth) treatments, the quality of life for children with spina bifida has changed dramatically over the past 50 years.

• #2 Spina Bifida: Types, Causes, and Treatments | Children’s Hospital Los Angeles

  https://www.chla.org/spina-bifida

  Spina bifida occulta typically requires no treatment. […] For myelomeningocele and more severe cases of meningocele, your baby will need surgery before or after birth. […] Treating these conditions before birth helps prevent further spinal cord and nerve damage and reduces the risk of complications, such as hydrocephalus. […] If the baby has not had prenatal surgery, after delivery the baby will have surgery within the first 24 to 48 hours to repair the myelomeningocele. […] Spina Bifida Program, families benefit from advanced prenatal care offered by our Fetal Maternal Center, where early diagnosis, prenatal counseling, and specialized treatment options are available to support the health of both mother and child.

• #2 Spina Bifida and Congenital Spinal Anomalies Center | Boston Children’s Hospital

  https://www.childrenshospital.org/programs/spina-bifida-and-congenital-spinal-anomalies-center

  At Boston Childrens Hospital, we recognize the diagnosis of spina bifida requires life-long management. […] Specialists in our Spina Bifida and Congenital Spinal Anomalies Center typically see newborn patients within the first few months of life for their first visit. […] Spina bifida is a whole-body condition that requires a whole-person approach. Managing the multiple specialists needed to care for your child can be overwhelming. […] This includes: Meningocele, Lipomyelomeningocele, Myelomeningocele, Chiari malformation, Tethered cord, Scoliosis, Clubfoot, Other bone deformities. […] From advanced imaging tests that shed light on your childs individual condition, to pioneering surgical treatments, to educational resources and emotional support, our staff is here to help ensure that your child has the best chance for a healthy, fulfilling life. […] In addition, our Spina Bifida Center is the only center in New England and one of only a few in the country that treats children with spina bifida into early adulthood.

• #3 Spina Bifida Workup: Approach Considerations, Urine Studies, Alpha-Fetoprotein and Acetylcholinesterase

  https://emedicine.medscape.com/article/311113-workup

  Perform urinalysis, urine culture, and a serum urea nitrogen creatinine test at birth to evaluate renal function in neonates with spina bifida. […] Early accurate assessment and subsequent frequent reassessments of neurologic status are necessary with anatomic and physiologic evaluation techniques. […] Estimation of maternal serum AFP has been used since the late 1970s. Blood samples are taken early in the second trimester. The AFP level is elevated in 70-75% of cases in which the fetus has an open spina bifida. […] Since many possible reasons exist for false-positive results, a presumptive diagnosis based on maternal serum AFP is confirmed with amniocentesis and assay of the amniotic fluid for AFP, as well as for the presence of acetylcholinesterase, a nerve-specific enzyme. […] Psychometric assessments of intelligence and cognitive function are indicated for patients with hydrocephalus and for patients who display deficits in speech and language functions and/or cognitive or academic skills.

• #3 Spina Bifida: Causes, Symptoms, Diagnoses, and Treatment

  https://www.webmd.com/parenting/baby/spina-bifida

  Spina bifida is often diagnosed before birth with tests that many pregnant people choose to have to screen for several conditions. It’s important to talk with your doctor about which, if any, of these tests you want and how you might use the results. […] An ultrasound is the most accurate way to diagnose spina bifida before birth. It’s more likely to detect the condition if it’s done in the second trimester (at 18-22 weeks of pregnancy) than if it’s done earlier. […] If the blood test shows a high level of AFP, but the ultrasound looks normal, your doctor may recommend amniocentesis. This is when your doctor uses a needle to take a small amount of fluid from the amniotic sac around the baby. If the AFP level in that fluid is high, that can indicate spina bifida. […] If other tests find signs of spina bifida, this imaging test can get detailed pictures of the spine and brain to look for the type of spina bifida and possible complications. […] Sometimes, spina bifida is diagnosed after a baby is born. That’s more likely if there was no prenatal testing or an ultrasound didn’t show any problems.

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