fetal health

Spina Bifida: Diagnosis, Prevention, Care

Congenital anomaly

Among the malformations of the central nervous system, spina bifida plays a leading role: it is a serious congenital anomaly of the spinal column and spinal cord, which often heavily compromises the patient's quality of life.

Despite being an incurable disease, spina bifida can be prevented: after a brief analysis of the diagnostic methods available, we will focus on preventive practices and current treatments aimed at alleviating the symptoms induced by the disease.

Spina bifida is an extremely serious genetic defect: hence the need to sensitize the medical profession and the population on this complex health problem. Future mothers must be aware of the risk their child may run: prevention is a concrete tool for protecting health, both for the mother and the unborn child.

Diagnosis of spina bifida

Early diagnosis of spina bifida is essential for prompt intervention, limiting short and long term damage as much as possible.

Thanks to the improvement of diagnostic strategies, it is possible to detect malformations of the spine (including spina bifida) even well before the baby is born. Indeed, ultrasound and numerous biochemical analyzes 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 via the trans-abdominal route. The amniotic fluid contains amniocytes, specific cells originating from the fetus; after the isolation of the aforementioned cells, it is possible to carry out various molecular or cytogenetic analyzes on them.
  • Ultrasound ultrasound: in addition to establishing gestational age and the possible presence of more fetuses in the womb, this examination also highlights possible structural abnormalities of the unborn child (eg spina bifida).
  • Blood analysis: any abnormalities on the composition of the pregnant woman's blood can be a light-filled disease, including spina bifida. An altered blood composition requires further investigation.
  • AFP test (alpha-fetoprotein): alpha-fetoprotein is a glycoprotein with functions similar to those of albumin, which can be isolated from a serum sample. The substance is synthesized especially during fetal life. If alpha-fetoprotein levels are high, it is likely that the fetus has defects in the closure of the neural tube, a typical sign of spina bifida.

Prevention

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

  • Folic acid supplementation before conception and during pregnancy significantly reduces (by 50%) the risk of spina bifida in the unborn child.

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

Natural sources of folic acid: oranges, whole grains, beans and legumes in general, liver, brewer's yeast, green leafy vegetables. Please note: folic acid is inactivated by prolonged cooking

Pregnant women who have already conceived a child with 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 suffering from the same disorder .

If the mother is familiar with spina bifida (parents, brothers, affected cousins), the fetus could still develop the anomaly of the rachis, independently of the generous integration of folic acid.

Preventive techniques include early diagnosis: ascertaining the disease during the first fetal stages will allow emergency neurosurgical intervention to be immediately corrected to correct the neural lesion within the first few days of life.

Possible therapies

Let us once again remember 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 - requires no treatment, and runs almost always asymptomatic, without creating any kind of complications.

Let's see what are the most used medical treatments in the case of spina bifida:

  • The most severe forms of spina bifida (myelomeningocele and meningocele) require surgery to close the opening located at the level of the spine. The operation, extremely delicate, is essential to preserve the functions of the spinal cord and reduce the risk of infection (eg meningitis).
  • Other surgical strategies are aimed at draining the liquor (accumulated in the patient's brain) in the abdomen: the operation, indicated in the case of hydrocephalus, is performed by implanting a ventricular-peritoneal shunt (passage, hole).
  • Prenatal surgery: before the 26th week of gestation, surgeons can operate the unborn child directly in the womb. The intervention consists in opening the mother's uterus and in the subsequent repair of the child's spinal cord.

The research is also improving in utero surgery, to minimize the damage generated by spina bifida to the unborn child.

  • Further surgical operations are aimed at adjusting bladder and intestinal function: we remind, in fact, that those suffering from spina bifida often lose control of the anal and bladder sphincters.

Children suffering from spina bifida will have to learn to use crutches and a wheelchair, since the disease also affects their ability to walk.

Although surgery is extremely effective in limiting damage or correcting disease as much as possible, an affected child will have to fight with spina bifida for life.