A pregnant mother went to the hospital after two weeks of abnormal vaginal discharge. In the 26th week, she had not taken folic acid or attended prenatal consultations. Upon examination, all amniotic fluid had been drained. Elisha Atuhairwe, a radiologist at the Remnant Diagnostic Center, who did an examination, found that the baby had serious defects.
“Although there was a heartbeat, there was no amniotic fluid around the baby. When examining the fetus, since we used the head, abdomen and femur to determine its pregnancy, I found that the head was missing and that is why the mother was instructed to terminate the pregnancy ”, says Atuhairwe, adding that mothers who do not go to the risk of prenatal care giving birth to children with neurological defects.
Neural tube defects are birth defects in the brain, spine or spinal cord. They happen in the first month of pregnancy, often before the woman even knows she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spine does not close completely.
In simpler terminology, spina bifida is a birth defect in which the baby’s spine does not form completely and can be exposed and damaged. This can cause infections, trauma and death. Low levels of folic acid consumed during and before pregnancy can be one of the causes, along with genetic causes. It is a high-risk disease that can result in the baby’s death in the first days of life.
According to Dr. Nandini Gokulchadran, a consultant neurosurgeon and head of medical services at the NeuroGen Brain and Spine Institute in Mumbai, India, spina bifida can happen anywhere along the spine if the neural tube does not close completely. When this happens, the backbone that protects the spinal cord does not form and closes as it should. This usually results in damage to the spinal cord and nerves.
Anencephaly is when the baby is born without parts of the brain and skull. This can be genetic or caused by other factors, such as nutritional and environmental factors. An insufficient intake of folic acid in the mother’s diet is a key factor in causing spina bifida and other neural tube defects.
The neural tube is a narrow channel that folds and closes between the third and fourth weeks of pregnancy to form the embryo’s brain and spinal cord. Anencephaly occurs when the “cephalic” or head end of the neural tube does not close, resulting in the absence of an important part of the brain, skull and scalp.
“Babies with this disorder are born without the forebrain (the front part of the brain) and a brain (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Children who are born with spina bifida usually have a fluid-filled sac on their back that is covered with skin, called a meningocele, ”says Dr. Nandini.
The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening is located in the spine and how much of the spinal cord is contained in the sac. Related problems may include loss of sensation below the level of the opening, weakness or paralysis of the legs and problems with the bladder and also with bowel control.
Some affected individuals experience additional complications, including accumulation of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida reach adulthood.
Scans to detect NTDs
Dr. Joseph Nsengiyumva, a general practitioner, says that when you go for a prenatal visit, your gynecologist will ask you to have an AFP test to determine the amount of alpha-fetoprotein (AFP) in your blood between 16 and 18 weeks of pregnancy. The higher the levels, the more likely your baby is to have a neural tube defect.
This is confirmed by means of an ultrasound according to Atuhairwe. “The role of the examination during pregnancy is to examine the entire baby. In most cases, anencephaly and spina bifida squeeze can be detected on prenatal ultrasound. Anencephaly can be detected between 10 and 15 weeks and spina bifida between 18 and 22 weeks, ”he says.
These neural tube defects are characterized by the absence of the brain, cranial vault (acrania) and fetal head in the uterus. In addition, the failure to identify normal bone structure and cephalic brain tissue to bone orbits is the most reliable feature of this anomaly.
He adds that anencephaly is more prevalent in women and that 50 percent of these babies die in the womb, while others die immediately after birth. “Do an ultrasound scan during pregnancy to make sure your baby is in good condition (in the womb) during pregnancy,” he advises.
There is no standard cure or treatment for anencephaly, according to Dr. Nandini. Treatment is supportive and may include the help of neurosurgeons, urologists and orthopedic surgeons, physical therapists and occupational therapists and social workers.
“For spina bifida, the surgical options are to close the defect and minimize the risk of infection or additional trauma in the first days of life. Fetal surgery (performed in the womb) is an option for some forms of spina bifida. The nerve damage in NTDs is irreversible, ”he says.
The main initial priorities for the treatment of myelomeningocele (a neural tube defect in which the spine bones are not completely formed) are to prevent the infection from developing through the exposed nerves and tissue through the spinal defect and to protect the exposed nerves and other trauma structures.
The probable outcome of the disease, activity and participation depends on the number and severity of the abnormalities and the associated personal and environmental factors. Comprehensive follow-up is required with all healthcare providers.
Dr. Nandini says: “Surgical treatment during pregnancy, also called prenatal repair of myelomeningocele, is a delicate surgical procedure in which fetal surgeons open the uterus and close the opening in the baby’s back while they are still in the baby. uterus in cases of severe spina bifida. ”
Some surgeries after birth can also reduce the severity of the disease, but the symptoms can persist. Through supportive treatments and physical and functional rehabilitation, children with NTDs can achieve independence at some level.