SPINA BIFIDA: WHAT IT IS AND HOW TO PREVENT IT

In Spain, between 8 and 10 of every 10,000 live newborns have some malformation of the neural tube, of which more than half of them are affected by Spina Bifida. These are data provided by the Spanish Federation of Spina Bifida and Hydrocephalus Associations (FEBHI).

It is estimated that in Spain there are 19,272 people with EB (0.51% of the total number of people with disabilities in this country), a figure that has been decreasing thanks mainly to the use of folic acid in pregnancy planning and prevention campaigns aimed at health personnel.

And despite these data and being a serious congenital malformation, spina bifida is a great unknown to the majority of the population. What does it consist of? What causes it? Can it be prevented? How is it treated? We try to solve the most frequent doubts.

What is a spina bifida?

The term comes from Latin and literally means split or open column.

It is a congenital malformation that It happens when the baby's spine does not form normally.

Explains the Madrid Association of Spina Bifida (AMEB) that is included within the Neural Tube Defects (DTN). The neural tube is a narrow canal that folds and closes between the third and fourth week of pregnancy to form the brain and spinal cord.

There is talk of spina bifida (EB), when the part of the neural tube that forms the spinal cord does not close completely between the 23rd and 26th day of pregnancy.

It is considered very serious because in 90 percent of cases it produces hydrocephalus and affects the central nervous system (CNS), the musculoskeletal system and the genitourinary system.

In Babies and more "It is vital to have information when discovered in pregnancy and you feel disconcerted," we talked to the mother of a girl with spina bifida

What is hydrocephalus?

Or what is the same "water in the brain." It is the accumulation of cerebrospinal fluid (CSF) inside the head, generally due to its inadequate absorption.

This causes an enlargement of the ventricles of the brain and greater pressure inside the head. Hence the need to place a valve to divert excess CSF to a part of the body where it can be absorbed again by blood flow.

How is EB detected in pregnancy?

Through the analysis of alphafetoprotein levels (AFP) in the mother's blood, between 16 and 18 weeks of pregnancy, between 64 and 80 percent of cases are detected.

The most severe neural tube defects let this substance escape and, consequently, high levels of AFP are recorded in the mother's bloodstream.

The combination of this test with those of ultrasound and those of amniotic fluid (amniocentesis) increases the validity of the results.

Further, the diagnosis must be confirmed with an ultrasound before the 20th week of gestation, to evaluate the spinal fusion defect and possible brain abnormalities.

What consequences does it have on babies?

FEBHI infographic

They will depend on the neural tube defect. The most serious are the open ones (the first two).

Meningocele A cyst or sac that contains membranes of the protective layer of the spinal cord (meninges) appears through the opening of the spine as if it were pushed outward.

In this sac there is cerebrospinal fluid and normally there is no nerve damage. People who suffer from it may have minor disabilities.

Myelomeningocele It is presented as a bag with exposed medullary nerve tissue and no skin coverage. The bag contains cerebrospinal fluid, nerves and neural plaque.

The medulla has not developed normally, which causes paralysis of the muscles and a loss of sense of touch, below the lesion. The degree of paralysis depends on where the defect is located.

This is the most serious form of spina bifida compatible with life, one of the most frequent causes of physical disability in childhood, and the most frequent neurogenic (altered) bladder and bowel.

Closed defects They appear as lumps in the lower lumbar area, sometimes with a lock of hair and appear at the end of the first trimester of pregnancy.

They cause a minimal neurological lesion in the legs but, in many cases it does affect the bladder. It can go unnoticed if it does not cause urine leaks.

How is spina bifida treated?

Today, spina bifida cannot be cured, although the consequences of the malformation can be minimized and the child's quality of life can be improved.

The first step is the surgical closure of the defect, not to restore the neurological deficit (it cannot be done), but to prevent infection of the nervous tissue and protect the medulla, which is exposed.

The operation is usually performed a few days after the baby is born, but it has been shown that prenatal surgery reduces the risk of developing motor and intellectual disabilities.

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Vall d'Hebron University Hospital in Barcelona has developed an endoscopic technique that allows spinal bifida fetuses to operate inside the uterus, without resorting to open surgery. This allows reducing the prematurity of these babies and the subsequent consequences of the disease.

The intervention is carried out endoscopically and seals the defect in the cord with a special patch called Patch and Glue. This surgery is less aggressive for both the mother and the baby.

Once it has been diagnosed, it will be treated for life by a multidisciplinary unit that will attend to the medical needs of the affected child, also in adulthood.

What causes it?

The causes are unknown, although according to FEBHI, experts believe that the origin is in the combination of genetic and environmental factors, such as the lack of folic acid or the alteration of metabolism due to a drug. But it must be made clear that:

It is not a hereditary congenital malformation

Although there is a family history of some type of neural tube defect, there is an increased risk of having a baby with this defect: 1.8% of every 1,000 births, 5% if a child with this malformation has already been had.

Can it be prevented?

It is recommended that women of childbearing age consume 0.4 milligrams of folic acid at least three months before becoming pregnant and during the first trimester of pregnancy. In this way, the chances of the child being born with spina bifida are reduced by up to 70 percent.

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But as many pregnancies are not planned, from the Spina Bifida Associations, women of childbearing age are encouraged to follow a diet rich in folic acid.

Other recommendations of the Center for Congenital Anomalies Research (CIAC), of the Carlos III Health Institute of Madrid:

Women with a family history of some type of neural tube defect or who have already had a baby with this malformation, should take 4 mg of folic acid from three months before becoming pregnant, and during the first three months of the gestation.
It is important that both men and women who try to have children, take care of their health, reduce exposure to toxic substances, avoid nutritional deficiencies and the intake of drugs without a prescription.
Men should also take small amounts of folic acid at least three months before starting to look for a pregnancy, since according to the Carlos III Health Institute, the biology of the child depends on the man by 50% and the risk of Maformation decreases if you ingest this supplement.