Spina bifida

Spina bifida affects 8 out of every 10,000 live births, is the second cause of severe congenital malformation and the second cause of physical disability in Spain after childhood cerebral palsy. In its most known and serious form, open spina bifida, marrow and its covers do not develop properly and are exposed to the outside without skin coverage, suffering irreversible injuries, in which both strength in the extremities, as well as their sensitivity, as the control of the sphincters are affected. In addition, about 80% of patients will suffer hydrocephalus concomitantly, which will require surgical treatment through a ventricular bypass valve. Even so, 80% of patients affected by spina bifida have a normal cognitive development and can lead an independent and active life with the necessary help.

There is a milder form called spina bifida oculi. It includes some malformations such as lumbar lipomas, dermal sinuses, diastematomyelia or anchored medullary cone, in which the covers of the spinal canal have not been fully developed, but the medulla is covered at least by the skin and subcutaneous tissue. They must be operated because they usually produce an anchorage of the spinal cord that can cause disorders in the function of the spinal cord. Symptoms can appear at any time of life and manifest as changes in the sensitivity or mobility of the legs, problems for sphincter control, such as urinary incontinence or persistent constipation or problems in erection or ejaculation when there are no other causes than can explain these alterations. Although there are severe cases of spina bifida occulta, in general this is less limiting.

What are your causes?

In addition to some environmental factors involved, several genes have been identified that are involved in the incidence of folic acid, related to the metabolism of folate and homocysteine, so it is necessary to supplement with external contributions of folic acid to women of childbearing age. desire to conceive. This can occur in the form of fortification of certain foods as is done in some countries where it is mandatory to supplement the flours, cereals or rice with different concentrations of folic acid. However, it has been shown that the best way to achieve this extraordinary contribution of folic acid in pregnant women is by supplementing with a dose of 0.4 mg daily of folic acid in the form of pills, which should be increased to 4 mg daily. if the woman has already had a first child with spina bifida.

When does it become harmful and what are its consequences?

In its most known and serious form, open spina bifida, marrow and its covers do not develop properly and are exposed to the outside without skin coverage, suffering irreversible injuries, in which both strength in the extremities, as well as sensitivity, as the control of the sphincters are affected. In addition, about 80% of patients will suffer hydrocephalus concomitantly, which will require surgical treatment through a ventricular bypass valve. Even so, 80% of patients affected by spina bifida have a normal cognitive development and can lead an independent and active life with the necessary help.

Although there are severe cases of spina bifida occulta, in general this is less limiting.

How can mothers prevent it during pregnancy?

Under normal conditions the closure of the neural tube occurs before the woman is aware that she is pregnant, so prevention must begin well before the moment of the union of the ovule with the sperm. Since the reserves of folic acid take time to fill up, the recommendation is that the supplement be started three months before pregnancy and be maintained until three months after the start of the same.. Since pregnancy is not always planned, any woman of childbearing age who can get pregnant should do the prevention through the intake of folic acid in the recommended doses. This should always be carried out under strict medical control, since although very few, there are some contraindications.

How can it be treated?

We can say that to date of today the surgery to the birth at the end of the pregnancy continues being the "gold-standard" recommended for the affected children of spina bifida. It must be ensured that the follow-up of the pregnancy and the planning of the birth takes place in a multidisciplinary center with all the guarantees for the mother and the newborn.

In 2003, a study was started among several North American hospitals that tried to demonstrate after recruiting 200 pregnant women of babies with spina bifida if the surgery to repair the defect in the fetus made between week 19 and 25 of pregnancy (therefore extracting the fetus to operate it and reintroducing it into the uterus until the pregnancy was completed) could improve the functional outcome of these patients compared to those operated at birth. The results of the study (MOMS) have been published recently and are not entirely conclusive. Although it seems that the incidence of hydrocephalus and associated Chiari malformation may be lower in infants operated intrauterine compared to those operated at birth, it has not been shown that the motor deficit improves and it seems that the genito-urinary deficits (neurogenic bladder) ) could be worse in babies operated intrauterine. Intrauterine surgery also increases the risk of complications in the mother and the fetus, with a high incidence of fetal prematurity. Intrauterine surgery is carried out in some centers of our country, but it must be evaluated very carefully before indicating it to a pregnant mother.

In cases of occult spina bifida, such as medullary lipomas, dermal sinuses or anchored medullary cones, treatment should be surgical when symptoms arising from this pathology are present.. In some cases, preventive surgical treatment is recommended, even in asymptomatic patients to prevent future complications. Surgical treatment of occult spina bifida usually has a good prognosis.