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The article was written by Specialist Doctor I Vo Ta Son - Fetal Medicine Unit - Vinmec Times City General HospitalSpina bifida is a condition in which the spine fails to close during the first month of pregnancy. In most cases of spina bifida, there is a fluid-filled sac that protrudes beyond the site of injury - this is called a herniated sac, it contains deformed nerves and the sheath around them called the medulla oblongata. Less common is the situation where the spine splits back and is not covered by the membranous membrane - this is called a spinal hernia.
1. What is spina bifida?
Spina bifida is a malformation of the spine in which the contents of the spinal cord are exposed through the defect of the spine. There are two types of spina bifida:
Open spina bifida is when there is no skin covering the injury Closed spina bifida is when the lesion is completely covered by the skin
2. How does spina bifida happen?
The causes of spina bifida are quite diverse with many factors contributing to the deformity. Folic acid deficiency increases the risk of spina bifida. It's important when you're planning a pregnancy to take a folic acid supplement before conceiving.
Abnormalities in the number of chromosomes or changes in chromosome structure are common in children with spina bifida. Other genetic problems can be the reason for spina bifida. Usually, no cause can be found to explain why this happens.
3. Should pregnant women do any more tests?
The two main types of deformities commonly associated with spina bifida are brain abnormalities and foot deformities. In most cases of open spina bifida, a typical change in the posterior part of the brain (called Arnold-Chiari anomaly) is observed. Many infants will also have accompanying dilated ventricles, and the feet will often be clubbed. Some children will have other abnormalities in their bodies that make things more difficult. Therefore, intensive ultrasonography is recommended for thorough fetal evaluation.
Because some babies will have chromosomal abnormalities, chromosomal testing with amniocentesis is usually recommended by your doctor. When amniocentesis is done, a small needle will be inserted into your abdomen to suck up some amniotic fluid and send it off for testing.
In rare cases, neural tube defects are part of an inherited disease, such as Meckel syndrome, Jarcho-Levin syndrome, and Currarino syndrome. These conditions are more likely to occur if other abnormalities are detected on ultrasound. Pregnant women will receive genetic counseling and decide with their specialist doctor if these possibilities are tested by amniocentesis.
4. How does spina bifida affect the baby after birth?
The extent of the impact depends on the location and extent of the spinal cord injury, as well as the presence of other abnormalities on ultrasound. Although most children survive, some do not. Survivors may experience problems such as quadriplegia, loss of bladder and bowel control, sexual dysfunction, and learning disabilities. Severe ventricular dilatation, clubfoot, and scoliosis are often associated with worse postpartum outcomes.
After birth, your baby will need surgery to correct the spinal defect and long-term follow-up to help deal with various problems related to changes in the spine and nerves. Many children will need multiple surgeries as they grow up.
5. Will spina bifida reoccur in the next pregnancy?
The risk of having a subsequent baby with spina bifida is about 2-4%. Taking high doses of folic acid before becoming pregnant may reduce this risk. In rare cases, the risk of recurrence is higher when some genetic cause is found. Your geneticist will help you assess your specific risk.
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Article referenced source: ISUOG