Genetic diseases: Spina Bifida

Definition

In today's post about genetic diseases we give visibility to spina bifida . It is a congenital (birth) defect that occurs when the spine and spinal cord do not form correctly.

Causes

The main cause of spina bifida is a deficiency of folic acid (a type of B vitamin) in the mother during the months before and during the three months following pregnancy. It is a defect in the fetal neural tube. This tube forms early in pregnancy and closes 28 days after conception. This means that if part of the tube fails to close or develop properly, it causes defects in the spinal cord and bones of the spine.

Genetics of the disease

The exact cause is unknown. However, it is currently thought that this malformation is due to a combination of genetic and environmental factors. There is a polygenic genetic predisposition (different genes) and various environmental factors, such as a lack of folic acid before conception, as well as altered folic acid metabolism due to the action of drugs or other factors.

Symptoms

Spina bifida can cause physical and intellectual disabilities, ranging from mild to severe. The severity depends on the size and location of the opening in the spine and whether part of the spinal cord and nerves are affected. In babies with spina bifida, it's common for a portion of the spine to form a bulge in the back, causing problems with movement, sensation, and more.

Diagnosis

During pregnancy, there are tests that can be used to diagnose or determine if the baby has spina bifida or other birth defects, such as AFP (a blood test that measures this protein, with high levels being characteristic of spina bifida), ultrasound, amniocentesis (analysis of the amniotic fluid that surrounds the baby in the uterus), and noninvasive prenatal tests to study neural tube defects. www.genotica.com We have tests that study the disease, such as NGS-SEQ+CNVs – NEURAL TUBE CLOSURE DEFECTS from Lorgen.

Treatment

Since spina bifida has no cure, all treatments must be aimed at minimizing deformities and maximizing the child's abilities and independence.