Prenatal Genetic :

Our bodies are made of millions of cells. Inside the nucleus of each cell is the blueprint of all cellular functions -our DNA.

The DNA manufactures proteins which ensure the smooth functioning of our cellular machinery. Our health depends on a normal DNA.

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence. Genetic disorders can be caused by

• A mutation in one gene (monogenic disorder)
• Mutations in multiple genes (multifactorial inheritance disorder)
• A combination of gene mutations and environmental factors
• Damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes).

With the advent of novel genetic testing methods, newer genes and genetic disorders are discovered every day! To understand these complicated scientific matters the profession “genetic counselling ,“was invented.

Genetic counselling is a communication process that seeks to assist affected or at-risk individuals and families in understanding:

• The natural history
• Disease risks
• Mode of transmission of a genetic disorder

It also helps:

• To facilitate informed consent for genetic testing when appropriate
• To discuss options for risk management and family planning.

You should opt for genetic counselling with our Board Certified Genetic Counsellor if

• There is a known genetic disorder in your family
• You are pregnant or planning a pregnancy and have doubts about your baby inheriting the condition.
• You are struggling with infertility and wonder if genetic testing might help you.
• You are perfectly normal but curious to know if you might be a carrier of some genetic disorder.

Some conditions which raise the red flag for a genetic counselling session

• Known genetic disorders like thalassemia, Down syndrome, DMD, SMA, sickle cell disease, Tay Sach disease, retinitis pigmentosa, etc.
• Spontaneous abortions
• Still births
• Sudden infant deaths
• Sudden adult deaths
• Cancers running in the family
• Any type of muscular or spinal illness in adults which makes them bedridden
• Any disease which was never diagnosed

How do we inherit genetic disease?