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In embryonic stage, neural tube is the precursor of the brain and spinal cord. The neural tube formation is a very complex process and its fusion occurs between day 21 to day 28 in early pregnancy. Anything abnormal with its fusion can lead to Neural tube defects or NTDs. 

Causes of Congenital disorders

These disorders account for the second most common defects that lead to severe disability. There causes include: 

• Multiple genes

• Nutritional factors

• Environmental factors 

Risk factors

Following risk factors increases the chances of development of congenital abnormalities in embryonic stage:  

• Family history 

• Presence of other syndromes and chromosomal disorders 

• Inadequate folate before and during pregnancy

• Anti-epileptic therapy

Classification of NTDs

They can be classified into cranial and spinal defects depending upon the site of involvement or into open and closed depending upon the exposure of neural tissue.

Cranial NTDs

• Anencephaly

• Encephalocele (meningocele or meningomyelocele)

• Congenital dermal sinus

Spinal NTDs

• Spina bifida

• Spina bifida occulta

• Myelomeningocele 

• Meningocele 

• Congenital dermal sinus

• Caudal agenesis

Investigations for detecting congenital abnormalities

During prenatal stage: Prenatal screening should be done to find any congenital abnormality. It should include: 

 

• Ultrasound 

• Measurement of maternal serum alpha-fetoprotein

• Amniocentesis in cases of adequate ultrasound images 

After birth: In cases where defects could not be detected in prenatal stage, following diagnostic tests may help to find the abnormalities after birth: 

 

• MRI   

• CT scan  

• Ultrasound  

   

Management of Congenital abnormalities

Management of any kind of congenital abnormality depends upon the abnormality and its severity. In most of the cases, surgical intervention is required to fix the defect.