Dr. Lucky Gupta
Neural tube defects (NTDs) are severe birth defects of the brain, spine, or spinal cord. NTDs happen when the spinal cord fails to close properly. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant.
The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn’t close completely. Myelomeningocele is the commonest lesion.
Neural tube defects are considered a complex disorder because they are caused by a combination of multiple genes and multiple environmental factors. The fetus is most vulnerable during the first 12 weeks. During this period of time, all of the major organs and body systems are forming and can be damaged if the fetus is exposed to drugs, infectious agents, radiation, certain medications, tobacco and toxic substances.
Diagnostic tests for NTDs include:
Measuring the alpha-fetoprotein (AFP) level by a blood test. About 80 percent of the time when a woman is carrying a child with spina bifida or anencephaly, her blood test will show a higher than normal AFP level.
Amniocentesis. One can get this test at 15 to 20 weeks of pregnancy. In this test, some amniotic fluid from around the baby in the uterus (womb) is taken.
Detailed ultrasound of skull and spine. It can be performed during the first trimester and second trimester. Spina bifida can be accurately diagnosed during the second trimester. .
Pregnant women under 17 or over 35 are considered high-risk pregnancies, being pregnant with multiple babies, having a history of complicated pregnancies, such as preterm labor, Cesarian section, pregnancy loss or having a child with a birth defect.
Symptoms include varying degrees of paralysis and loss of sensation in their lower extremeties, along with urinary incontinence and constipation. Orthopaedic deformities of the feet and legs, hip and spinal scoliosis, kyphosis and lordiosis may be present initially or develop later. Some babies with spina bifida have hydrocephalus (excess fluid in the brain), which can damage the brain and cause further problems. The severity of the deficits depends on the size and location of the malformation ; larger and more rostral malformations produce more severe deficits. Most children survive to adulthood, and life expectancy is not significantly different from the normal population. A shunt for hydrocephalus is required in about 80%. Eighty percent have normal intelligence, although 60% of these have some sort of learning disability such as: a short attention span. Some people with NTDs have no symptoms.
Treatment: Currently, there is no cure for spina bifida, but there are a number of treatments available to help manage the disease and prevent complications. In some cases, if diagnosed before birth, the baby can undergo surgery while still in the womb in an effort to repair or minimize the spinal defect. Many deaths are sudden and unexpected with renal failure as the most typical cause of death. Those with spina bifida lower on the spine (near the hips) might have more use of their legs and use crutches, braces, or walkers, or they might be able to walk without these devices.
CDC urges all women of reproductive age to get 400 micrograms (mcg) of folic acid every day, in addition to consuming food with folate from a varied diet, to help prevent NTDs. Folic acid can reduce certain birth defects of the brain and spinal cord by more than 70 percent. The CDC recommends that start taking folic acid every day for at least a month before you become pregnant, and every day while you are pregnant. However, the CDC also recommends that all women of childbearing age take folic acid every day.
The author is Consultant (Pediatric Surgeon and Urologist)
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