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Neural Tube Defects - Prevalent Types, Diagnosis, and Treatment

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Some infants have anomalies called neural tube defects that affect how their brains and spinal cords grow. Read the article below to learn more.

Written by

Dr. Shikha

Medically reviewed by

Dr. Abhishek Juneja

Published At December 27, 2022
Reviewed AtJanuary 24, 2023

What Are Neural Tube Defects?

Birth defects or congenital diseases of the brain, spine, or spinal cord are known as neural tube defects. They occur in growing fetuses during the initial month of pregnancy, frequently before one even discovers they are expecting. Spina bifida and anencephaly are two of the most commonly seen abnormalities of the neural tube. The two sides of the developing baby's spine or backbone often fuse together during the first month of pregnancy to cover and protect the spinal cord, spinal nerves, and meninges (which are the tissues that cover the spinal cord). The neural tube refers to the developing brain and spine of the unborn child at this time.

The top portion of the neural tube develops into the child's brain, while the remainder of the tube becomes the child's spinal cord. When this tube partially closes anywhere along its length, a neural tube defect occurs.

What Are the Prevalent Types of Neural Tube Defects?

Neural tube defects fall into two categories: open, which is more prevalent, and closed. When the spinal cord or the brain is exposed due to a defect in the skull or vertebrae, this condition is known as an open neural tube defect. Open neural tube defects include spina bifida, which is the most prevalent type, as well as encephaloceles, anencephaly, iniencephaly, hydranencephaly, and schizencephaly. When the spinal cord defect is covered by skin, it is known as a closed neural tube defect. Lipomeningocele, tethered cord, and lipomyelomeningocele are examples of closed neural tube defects.

  • Spina Bifida: The most prevalent form of neural tube defect is spina bifida. It occurs when the neural tube of the unborn child partially opens along the spine while the child is developing in the womb.

  • Iniencephaly: When the unborn child's spine is severely deformed, it is known as iniencephaly. The baby's head is frequently substantially twisted backward due to the lack of a neck. The baby's scalp and face skin are in continuation to their back and chest, respectively. Iniencephaly frequently results in stillbirth for the infant.

  • Tethered Cord Syndrome: When the spinal cord is improperly tethered to the surrounding tissue, tethered spinal cord syndrome develops. The risk of a sudden, catastrophic injury during childhood or adolescence, such as paralysis, increases, if a tethered spinal cord is not detected.

  • Anencephaly: When the anterior-most end portion of the neural tube fails to close, which typically happens between the 23rd and 26th days of pregnancy, anencephaly develops. As a result, the skull and a significant piece of the brain are missing. Babies born with this syndrome typically have significant craniofacial deformities, are blind, deaf, and lack the majority of the forebrain.

The infant would not even be able to become awake because of the absence of a functioning cerebrum. Infants frequently pass away within a few hours or days of delivery, or they are stillborn. Certain skin anomalies along the midline of the back can be used to diagnose tethered spinal cord syndrome.

How to Diagnose Neural Tube Defects?

  1. Blood Test: In the 16th to 18th week of pregnancy, the doctor will prescribe a screening test to check the level of alpha-fetoprotein (AFP) in the blood. About 75% to 80% of women who are pregnant and carrying a child with a neural tube defect have a higher quantity than average. In order to better assess the developing baby, the doctor may prescribe additional testing, such as an ultrasound, if the level is elevated. The ultrasound that is performed around the 12th week of pregnancy or, more commonly, the anomaly scan that is performed between weeks 18 and 20 may both detect neural tube problems.

  2. Ultrasound: A safe process called an ultrasound scan utilizes sound waves to provide an image of the interior of the body. Most hospitals will provide pregnant women with at least two ultrasound scans. The first one, which is typically done between eight and 14 weeks, is commonly referred to as the "dating scan" since it can be used to estimate the due date. If the disease is severe, this initial scan might be able to spot issues with the baby's spine that could point to spina bifida. A second ultrasound, named the nuchal translucency scan, is performed at 12 weeks to look for symptoms of Down syndrome, among other things. If a dating scan is not performed prior to this, the nuchal translucency scan can serve as the dating scan.

  3. Morphology Scans: An ultrasound test called a morphology or anomaly scan is done between weeks 18 and 20 of the pregnancy. This scan seeks to find any physical issues the baby may have. Typically, a diagnosis of spina bifida is made during this examination.

  4. Amniocentesis: This test is used by medical professionals to examine the unborn child for neural tube defects and other birth abnormalities. During amniocentesis, a sample of fluid is taken from the amniotic sac, which surrounds the unborn child. This test is available between 15 and 20 weeks of pregnancy. Risks are involved with this test. Make sure to discuss the procedure with the healthcare professional.

How to Treat and Prevent Neural Tube Defects?

The best treatment strategy combines various disciplines in assessing the cases of children with neural tube abnormalities.

  • Surgical Intervention for Neural Tube Defects: Surgery is used to treat physical deformities. Early surgical repair is required if the child's spinal cord is exposed in order to avoid infection and neurological impairments. When a child has tethered spinal cord syndrome, the tether will be cut loose during surgery. The pediatric neurosurgeon will also remove any patches of fat that are entangled with the nerves during the procedure. Follow-up care is crucial after surgery to track the child's progress. To ensure that the child is making improvements, the pediatric neurosurgeon will set up follow-up appointments. It is also crucial for the child's general well-being that the child sees other specialists.

How Can Neural Tube Defects Be Prevented?

By raising folate (folic acid) intake at least a month before conception and during the first three months of pregnancy, about two in three neural tube abnormalities can be avoided. Early in the embryo's development, especially in the third and fourth weeks, when neural tube abnormalities commonly occur, and many women are unaware that they are pregnant, adequate folate levels are crucial. By including foods fortified with folate in the diet on a regular basis, eating foods enriched in folate, or adding a folic acid supplement, one can improve their intake of this vitamin. Green leafy vegetables, fruit (citrus, berries, and bananas), legumes, and some grains are excellent sources of folate (bread and many breakfast kinds of cereals now have added folate). Before taking folate, women who use medication to treat epilepsy, seizures, or psychiatric illnesses should see their doctor because it may affect how those treatments work.

Conclusion:

Typically, laboratory or imaging tests are used to determine neural tube defects prior to the baby's birth. Defects in the neural tube are incurable. Normal persistent nerve damage and function loss are evident at birth. However, a number of treatments can occasionally stop more harm from occurring and assist with problems.

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Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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spina bifidaneural tube defects
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