Spina bifida and neural tube defects: what they are and how they are prevented

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Marie-Ange Demory
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In this article

  • What is
  • Spina bifida: what it is and what it entails
  • Risk factors
  • The importance of folic acid

Neural tube defects, what they are

As a document published by the ISS Health portal explains, neural tube defects are congenital malformations of the central nervous system (consisting of the brain and spinal cord) due to abnormalities in the closure of the neural tube, the embryonic structure that gives rise to the brain, spinal cord and meninges, the membranes that cover them. Other structures related to the central nervous system, such as bones and skin, may be affected.

The neural tube is an open, leaflet-like structure that begins to form in early pregnancy and then folds and closes along its length with a hinge mechanism within 28 days after conception.

Anomalies in this closing process can result

  • anencephaly (total or partial lack of the brain and skull),
  • encephalocele (leakage of part of the brain and meninges due to incomplete welding of the skull bones)
  • e spina bifida, the most common neural tube defect.

From the data of the regional registries of congenital malformations, it appears that in Del Paese neural tube defects affect approximately 1 newborn every 1600, and in 50% of cases it is spina bifida. Overall, these defects can be determined by various causes: genetic, environmental and nutritional.

Spina bifida, what it is and what it entails

It is a malformation characterized by an opening of the vertebral column (which therefore appears bifid), with exposure to the outside of the nervous tissue of the spinal cord and meninges (which is normally contained within the vertebral canal).

However, the involvement of the spinal cord and meninges varies: the most severe form of spina bifida is the so-called myelomeningocele, in which the meninges and spinal cord protrude from the spinal canal forming a sac on the baby's back. The exposed nervous system can be prone to serious infections, so surgery is needed just after birth or even before, in utero.

Read also: Corrected spina bifida in utero: a new type of intervention in our city

Neural tube defects can be incompatible with life already in the neonatal period, or extremely disabling.

Children with spina bifida can have several manifestations which include

  • neurological defects (with epilepsy, cerebral palsy or movement problems, numbness in the lower limbs and paralysis),
  • skeletal changes (scoliosis, deformity of the hips and ankles, club foot),
  • difficulty in controlling the function of internal organs (with bladder and bowel incontinence)
  • e metabolic disorders including obesity.

Some children with spina bifida also may have difficulties

  • in learning,
  • in attention,
  • in concentration
  • or in language.

However, they also exist hidden forms, which generally do not give obvious symptoms although sometimes there may be some signs on the skin of the newborn - a dimple, an abnormal tuft of hair - in correspondence with the part of the spinal cord affected by the malformation.

In recent years, important advances in treatment and care have led to a progressive reduction in both mortality and the severity of some manifestations. The treatment process is long and complex, but for many children it has become possible to lead an independent and practically normal life.

Risk factors for spina bifida

Various conditions have been identified as risk factors for spina bifida and neural tube defects in general. In particular:

  • low consumption (and therefore low levels) of folic acid and folate (vitamin B9) during pregnancy and the period before conception. In reality, it is not yet clear how this vitamin helps prevent spina bifida, but several studies have indicated that proper folic acid supplementation before conception and during the early stages of pregnancy can reduce the risk of developing it by up to 70%;
  • familiarity, so if a family member (or previous child) has a neural tube defect, the likelihood of having a baby (or another child) with spina bifida is higher. Obviously, in these conditions it is even more important to take folic acid from when you start planning a pregnancy in the first 12 weeks of pregnancy;
  • taking certain medications during pregnancy, such as valproate and carbamazepine, used primarily to treat epilepsy or bipolar disorder;
  • maternal obesity and presence of 2 type diabetes.
Read also: Drugs in pregnancy: which are allowed and which are forbidden

Folic acid, essential for prevention!

Based on the results of numerous scientific studies, it is now widely recognized that regular folic acid intake from before conception reduces the risk of neural tube defects by 50-70%. It also appears that this supplementation can reduce by 10-20% in all the risk of other congenital defects including heart disease and cleft lip and palate (cleft lip).

Here are the indications of the Higher Institute of Health for the intake of folic acid:

  • To start well, it is better to follow acorrect and balanced nutrition rich in fruits and vegetables that provide good amounts of folic acid: oranges, mandarins, clementines, kiwis, strawberries, spinach, asparagus, artichokes, endive, chard, broccoli, cabbage. Among foods of animal origin, the highest folate content is found in liver and other offal, some cheeses and eggs;
  • However, the diet is not enough: it is necessary supplement with a daily folic acid supplementation, to be started at least one month before conception and throughout the first trimester of pregnancy;
  • How many? The recommendation is 0,4 milligrams per day (400 micrograms). But be warned: Women with well-recognized risk factors for neural tube defects are recommended 4-5 milligrams per day.
Read also: Folic acid, very important before pregnancy 20 PHOTOS

Folic acid, 18 foods that contain it

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Women of childbearing potential who are planning to become pregnant should supplement their diet with folic acid. Proper nutrition allows you to cover your needs ...

The campaign of the Del Paesena Society of Neonatology in favor of foods fortified with folic acid

On the occasion of the World Spina Bifida Day, which is celebrated on 25 October, the Del Paesena Society of Neonatology recalled last year that in our country only 30% of women planning to have a baby follow adequate preconceptional prophylaxis with folic acid. For this reason, according to the Sin it would be appropriate also in Del Paese the introduction of a norm that pays Fortification of some foods with folic acid is mandatory (in particular cereal flours, as happens in other countries). The Company has declared that it intends to promote, together with other interested parties, a bill on the subject.

As the nutritionist Stefania Ruggeri explains on the Epicentro site, mandatory fortification is a process according to which the State, following the indications of a series of experts and extensive assessments on the risk-benefit ratio of this choice, obliges the manufacturing companies to enrich a certain food - often cereal flours - with a certain nutrient. The goal is to heal, with a generalized public health intervention, any lack of certain nutrients at the population level.

La obligatory fortification with folic acid of cereal flours was first introduced in 1998 in the United States and the effectiveness of the measure has been demonstrated by many studies. In the world today there are about 86 countries in the world that have adopted mandatory fortification, none of them in Europe, where a more prudent attitude, due to the possibility of some risks, including over-employment by some population groups such as children and the elderly.

In Del Paese for folic acid, only voluntary fortification is currently allowed (for which a company voluntarily chooses to enrich its products or one of its product lines).

Among the foods fortified with folic acid most common are:

  • breakfast cereals,
  • some snacks,
  • strip,
  • rusks,
  • some multivitamin fruit juices,
  • diet pasta,
  • meal replacements,
  • biscuits,
  • ready frozen products,
  • yogurt
  • and many products for early childhood (milk, yogurt, biscuits, homogenized pasta).
Read also: Spina bifida: the testimonies of mothers

Sources for this article and for further information:

  • Spina Bifida Association of the Country;
  • ISS Salute information material;
  • Epicentro information material;
  • Information material from the Ministry of Health.

  • spina bifida
  • folic acid
  • congenital defects
  • congenital malformations
  • weeks 1-13
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