What Is Neural Tube Defect? | Are Neural Tube Defects Genetic?

What is Neural Tube Defect?

Neural tube defect is a congenital malformation of the brain, and spinal cord. It is seen when such a disorder is formed in the brain and spinal cord that it fails to stop completely.

The neural tube defect occurs within the first 5 weeks of pregnancy. It is a very serious congenital disease.

Neural tube defect is the congenital malformations of the CNS in that neural tube does not close appropriately during intrauterine life.

Mainly it is close between 3rd and 4th weeks of fetal development.

Failure of neural tube closer produces defects of varying degrees, and it may depend upon the length of the neural tube.

It occurs in about 1 to 5 per 1000 live births.

Spina bifida

Spina bifida is the most frequent anomalies of neural tube development seen in infants. 

Definition: Spina bifida is the congenital malformation of the spinal column due to the failure to the vertebra column’s fusion with or without protrusion of layer of the spin and the meninges and al cord. 

It is the malformation of the spine in which the posterior portion of the vertebra fails to close.

Neural Tube Defect
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Are neural tube defects genetics?

Yes, Further studies have shown evidence for the genetic pattern of inheritance for Neural Tube Defect. This is the feature (or symptom) of known genetic syndromes, such as trisomy 13, trisomy 18, specific chromosome rearrangements, and Meckel-Gruber syndrome.

Types of spina bifida

1.Spina Bifida Occulta

In occulta, the outer part of the vertebrae does not close completely. It is the most frequent and most benign neural tube defect. There is defective closure of the posterior arch and laminae of the vertebrae, usually L5 and S1.

There is no protrusion of meninges, but the spinal cord’s dysplasia is a prominent feature. Most of the cases are asymptomatic

It further divided into two

Meningocele – Protective coverings are repressed through openings in the vertebrae and form a herniation. Corrective surgery is the treatment choice. 

Myelomeningocele – Vertebrae fail to fuse and the coverings of the spinal cord. And spinal nerves. Spinal nerves and spinal cords become damaged. 

2.Spina Bifida Cystica

That is bone defects seen in the vertebral column that cause cleft in the column.

Types of spina bifida cystica

(A) Meningocele:  It is the least type of spina bifida cystica; meningocele is the sac forming a spinal fluid and not having neural tissues in the pouch, and developed between the vertebras.

(B) Myelomeningocele : This type of spina bifida, and it causes severe complications. In myelomeningocele, there is a protrusion of the spinal column and do not close before birth.

Exposure of spinal tissues and nerves cause the infections and life-threatening conditions in the baby. 

Causes of neural tube defect

  • Drugs for ovulation.
  • Radiation
  • Maternal malnutrition mainly a folic acid deficiency 
  • Genetic mutation
  • Maternal obesity
  • Maternal diabetic Mellitus
  • Maternal exposures to fumonisins, electromagnetic fields, hazardous waste sites, disinfection by-products found in drinking water and pesticides. Low maternal vitamin B12 status
  • Maternal Hyperthermia
  • Chromosome abnormalities: 
  • Trisomy’s 13 and 18
  • Triploid
  • Single gene mutations

Symptoms of neural tube defect

  • Paralysis of the legs 
  • Partial or total lower body weakness 
  • Learning disabilities
  • Visual impairment 
  • Stunted growth 
  • Mental retardation 
  • Difficulty in movement  
  • increased muscle tone 
  • Respiratory issues 
  • Progressive enlargement of the head 
  • Vomiting, Nausea 
  • Coma 
  • Urinary and bowel dysfunction 
  • Cardiac abnormalities defects
  • Bladder and bowel control problems
  • Eye abnormalities 

check out: Mentally Challenged Child: How To Deal With Them?

Diagnostic evaluation of neural tube defect

  • USG examination: It generally performed after 18 weeks of pregnancy. Anencephaly could be detected earlier than 16 weeks. 
  • Maternal serum alpha-fetoprotein test: Alpha-fetoprotein, a plasma protein produced by the fetus, may appear in the bloodstream of a mother after crossing the placenta.
  • Amniotic fluid Alfa-fetoprotein (AFAFP) test: Alpha-fetoprotein can found that an elevated level of protein in amniotic fluid around the fetus can indicate a neural tube problem. 

Must read: What Is Placenta Previa? | How To Be Intimate With Placenta Previa?

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Management of neural tube defect

  • In diet balanced diet for antenatal women and folic acid supplementation 
  • The spinal cord and spine nerve roots are put back inside the spine. 
  • Monitor the growth and development of the child.
  • To treat and evaluate nervous system disorder such as Seizure disorders, and any others. 
  • To give Physical therapy
  • Speech therapy

I also wrote a tutorial on: Speech Disorders: Risk Factor, Cause, Symptoms, And Treatment you can read.

Complications of neural tube defect

  • Hydrocephalus
  • Frequent Urinary Tract Infections
  • Cerebral Palsy
  • Loss Of Bowel Or Bladder Control
  • Permanent Weakness Or Paralysis Of Legs 

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