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Spina Bifida: Diagnosis, Prevention, Treatment

Congenital anomaly

Among the malformations of the central nervous system, spina bifida plays a leading role: it is a serious congenital anomaly of the spine and spinal cord, which often seriously compromises the patient’s quality of life.
Despite being an incurable disease, spina bifida can be prevented: after a brief analysis of the available diagnostic methods, we will focus our attention on preventive practices and current treatments aimed at alleviating the symptoms induced by the pathology.
Spina bifida constitutes an extremely serious genetic defect: hence the need to raise awareness among the medical profession and the population on this complex health problem. Future mothers must be aware of the risk that their child could run: prevention is a concrete tool for protecting health, both for the mother and for the unborn child.

Diagnosis of spina bifida

Early diagnosis of spina bifida is essential to intervene promptly, limiting short and long-term damage as much as possible.
Thanks to the improvement of diagnostic strategies, it is possible to detect spinal malformations (including spina bifida) even long before the birth of the child. Ultrasound and numerous biochemical tests, in fact, allow us to confirm a suspicion of spina bifida already in the 1st-3rd trimester of gestation.

What are the most accredited diagnostic techniques?

  • Amniocentesis: minimally invasive technique consisting in the collection of a sample of amniotic fluid transabdominally. Amniotic fluid contains amniocytes, specific cells from the fetus; after the isolation of the aforementioned cells, it is possible to conduct various molecular or cytogenetic analyzes on them.
  • Ultrasound ultrasound: in addition to establishing the gestational age and the possible presence of multiple fetuses in the mother’s womb, this test also highlights possible structural anomalies of the unborn child (e.g. spina bifida).
  • Blood tests: any anomalies in the composition of the pregnant woman’s blood can be a sign of a pathology, including spina bifida. An altered blood composition requires further investigations.
  • AFP (alpha-fetoprotein) test: alpha-fetoprotein is a glycoprotein with functions similar to those of albumin, which can be isolated from a serum sample. The substance is synthesized mainly during fetal life. If alphafetoprotein levels are high, the fetus is likely to have neural tube defects, a typical sign of spina bifida.
Prevention

Prevention is the best shield to defend the fetus from spina bifida, as well as the best treatment and protection for the unborn child. Thanks to the awareness campaign aimed at informing the population about this serious disease, the incidence of myelomeningocele has undergone a drastic decrease in recent decades.

Although many foods are abundant in folic acid, pregnant women need higher quantities than those recommended for the general population (400 mcg/day, versus the classic 200 mcg/day); consequently, the intake of vitamin B9 through diet alone may be insufficient to guarantee full protection from spina bifida. Hence the need to integrate the diet with specific folic acid supplements.

 

Pregnant women who have already conceived a child affected by spina bifida must take an even higher dose of vitamin B9 (4-5 mg/day), in order to minimize the risk of giving birth to another child affected by the same disorder .
If the mother has a family history of spina bifida (affected parents, siblings, cousins), the fetus could still develop the spinal anomaly, regardless of the generous supplementation of folic acid.
Among the preventive techniques we also remember early diagnosis: the assessment of the disease during the first fetal stages will allow an emergency neurosurgical intervention to be performed within the first few days of life to immediately correct the neural lesion.

Possible therapies

Let us remind you once again that spina bifida is an incurable disease. The drugs and treatments currently available are indicated exclusively to minimize the damage and complications of the disease.
Only the mild variant – spina bifida occulta – does not require any treatment, and almost always passes asymptomatic, without creating any type of complications.
Let’s see what the most used medical treatments are for spina bifida:

  • The most serious forms of spina bifida (myelomeningocele and meningocele) require surgery to close the opening located in the spine. The extremely delicate operation is essential to preserve the functions of the spinal cord and reduce the risk of infection (e.g. meningitis).
  • Other surgical strategies aim to drain the liquor (accumulated in the patient’s brain) in the abdomen: the operation, indicated in case of hydrocephalus, is performed by implanting a shunts (passage, hole) ventriculoperitoneal.
  • Prenatal surgery: Before the 26th week of gestation, surgeons can operate on the unborn baby directly in the womb. The surgery consists of opening the mother’s uterus and subsequently repairing the baby’s spinal cord.

Research is also improving on in utero surgery, to minimize the damage caused by spina bifida to the unborn child.

  • Further surgical interventions are aimed at fixing bladder and intestinal function: let us remember, in fact, that spina bifida sufferers often lose control of the anal and bladder sphincters.

Children with spina bifida will need to learn to use crutches and a wheelchair, as the disease also affects walking ability.
Although surgery is extremely effective in limiting the damage or correcting the disease as much as possible, an affected child will have to struggle with spina bifida for life.

Other articles on ‘Spina Bifida: Diagnosis, Prevention, and Treatment’

  1. Spina Bifida: signs or symptoms
  2. Spina Bifida

 

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