Fri, 12 Aug 2022

Sudden changes in genes or chromosomes (mutation) lead to the development of genetic disorders; some congenital abnormalities are hereditary, while others are spontaneous. Hereditary means muted genes passed down from parents to their offspring, while spontaneous means disorders happen by the wrong concentration of genetic material or destruction of genetic material by drugs, chemicals, alcohols, etc.

Our genes are just like software on which genetic information is encoded; a slight change in the gene sequence causes serious health issues. Therefore, couples must speak with the doctor and undergo a genetic disorder screening test when planning for a baby. After conceiving, women must protect themselves from hazardous environmental factors. It is not enough to simply take prenatal supplements. Benefits of vitamin B12 may not always be absorbed by the parent especially if they have the MTHFR gene defect.

Risk factors for genetic disorders

There are chances that the baby of a healthy parent can be born with congenital abnormalities. However, various risk factors associated with genetic disorders enhance the chances of the developing fetus or baby getting genetic disorders.

  • Each generation inherits a genetic disorder
  • Multiple pregnancy (twins or triplets)
  • Past pregnancy had a genetic disorder
  • Pregnant with the age of 35 or above
  • Interact with dangerous chemicals or certain infections
  • The dearth of folic acid or parental vitamins
  • Poor handling during In-vitro fertilization procedure
  • Smoking, alcohol, and addictive drugs

Causes of genetic disorders

Genes carry instructions the body uses to build proteins and other important structures. Everything that can damage the genes is responsible for developing genetic disorders. Sometimes, it's challenging to find the cause of genetic diseases. The factors that cause genetic disorders are;

  • Genetics (chromosomal or hereditary abnormalities)
  • Exposure to chemicals or drugs
  • Exposure to infectious species
  • Exposure to ultra-violet radiations
  • Smoking and alcohol

Common Genetic disorders

There are many types of congenital disorders, and the most common disorders are described below;

Chromosomal disorders

When chromosomes increase (extra) or decrease (missing) in genetic material, leading to chromosomal disorders.

  • Down syndrome
  • Trisomy 13 & 18
  • Klinefelter syndrome
  • Turner syndrome
  • Edward syndrome

Hereditary disorders

Hereditary disorders are developed when parents pass their muted or defective gene to their offspring. These disorders may continue from generation to generation. Heredity disorders appear in the baby when both parents provide their gene -Recessive expression. These disorders are specific among certain groups. The most common hereditary disorders are;

  • Sickle-cell anemia
  • Beta thalassemia
  • Cystic fibrosis
  • Tay-Sachs disease
  • Neurofibromatosis type 1

Multifactorial disorders

There are many types of multifactorial disorders, including;

  • Autism-spectrum disorder
  • Spina bifida
  • Diabetes
  • Cancer
  • Migraine headaches

Symptoms of genetic disorders

Babies born with genetic disorders have to face many challenges in life. The symptoms vary from disease to disease. These disorders damage the organs of the body. However, the victim may experience the following symptoms such as;

  • Underdeveloped brain and spinal cord
  • Physiological changes
  • Having less ability to make decisions
  • Breathing difficulties
  • Less developed digestive system
  • Neurological problems
  • Difficulty during muscle movement
  • Cleft lip and palate
  • Hearing or vision loss
  • Short stature

If genetic disorders are in your family, you need genetic counseling from a doctor who is aware of the risk of genetic disorders if you have a baby. However, several screening tests are available that detect congenital abnormalities. Some disorders have no chance of treatment. But some can be cured to some extent. Thus, various treatments are available that reduce the disease's severity, alleviating the burden on the affected person.


Genetic disorders are serious health issues developed due to changes in genes or chromosomes. Some genetic disorders are irreversible and have no treatment. However, treatments are discovered that treat the disorders and lower the symptoms to some extent.


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