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Genetics is the study of the inheritance pattern of an individual. Doctors study genetic map of an individual in order to find out the cause of a disease. This helps the doctors to cure the disease more efficiently. Genetic disorders are caused due to prior genetic deformity that causes birth defects, chronic diseases, and developmental problems. These can be inherited from either by parents, grandparents or great grandparents. 

What is a Genetic Disorder? 
A genetic disorder may be caused due to malfunction in chromosomes that causes severe birth defects, chronic diseases, genetic defects etc. The way we look and function, all of it depends on genetics; from our height to color of eyes, we inherit everything from our parents. Further, parents inherit their genes from their parents, so it is likely that a child may have blue colored eyes his grandfather had irrespective of parents having brown eyes. Mostly, the dominant character in our genes is reflected in the child, just like that sometimes, genetic defects are also inherited.  We cannot choose what to inherit from our parents or genes. Everything is random and no one can predict the course of gene crossing while conception.

 Genetic disorder may be due to: 
Aneuploidy which means there is a wrong number of a chromosome. 

  • Deletion or addition: This type of genetic disorder is caused due to addition or deletion of a chromosome. 
  • Inversion: In this the chromosome is broken.
  • Translocation: In this, there is a difference in the arrangement of a chromosomal segment from one location to another. 

Birth Defect Caused due to Genetic Disorder: 

  • Genital malformation
  • Missing arms or legs, Down syndrome,
  • Diaphragmatic hernia
  • Congenital heart disease
  • Angelman syndrome
  • Glaucoma
  • Carpenter syndrome
  • Clover leaf deformity 
  •  Kidney or urinary tract disease.
  • Cystic fibrosis
  • Cancer
  • Sickle cell disease
  • Learning disability

Genetic counseling:
Genetic counseling is very important as it tells if a person is at risk of developing genetic disorder. Genetic counseling helps in early detection of a disease or cancer. It can be conducted by a geneticist, or a doctor who knows well about the cause of the disorder, medical management and appropriate treatment.  The counselor makes a genetic chart and explains the genetic defect accordingly. 

Benefits of testing:

  • Having the knowledge if the baby has a genetic disorder or not.
  • Knowing the precautions and methods of cure in case the child has a genetic disorder.
  • Early detection of the disease helps in early cure and proper treatment of the child.

Why Eternal Hospital?
At Eternal Hospital, we have a highly qualified and dedicated team of Pediatrics who are always committed to providing the latest and most advanced medical care to all our patients. Being a trusted name in healthcare, we act compassionately while ensuring confidentiality to those who need it. We have set high standards in patient-centric premium care and outstanding patient safety, and exceptional maintenance in a timely manner. In addition, we adhere to the use of up-to-the-minute innovations to offer state-of-the-art treatments to our patients with unparalleled results.

Meet Our Team

Dr. Shiv Dayal Sharma

Director Paediatrics and Neonatology