Foetal screening tests including genetic study 

Genetic Testing

Genetic testing is performed to identify changes or abnormalities in the genetic makeup (DNA, chromosomes, genes and proteins) of humans. The tests can be performed at any stage of life, but is recommended in certain cases before conception, during pregnancy or after birth, to detect abnormalities in the new born. Samples for testing can be taken from blood, cheek swabs, and amniotic fluid (protective liquid in which the unborn child develops) or chronic villus (absorb nutrients from mother) samples in case of prenatal genetic testing.

Genetic testing can be molecular genetic testing, used to study short lengths of DNA to identify mutations, chromosomal genetic testing, to study changes in chromosomes like duplication or reduction in number, and biochemical genetic testing, which is used to study the amount of protein activity. Although genetic testing may give you an insight into the diseases you may develop, it is not always necessary that you will develop a certain condition if your genetic test is positive.

Genetic testing may be done to

  • Check for the presence of genetic conditions in the unborn (embryo or foetus) or new born
  • Test for genetic conditions in adults before symptoms surface
  • Diagnose and confirm genetic conditions
  • Check for inheritance or transmission of a certain condition to your family members (carrier testing)

Genetic testing provides vital information for the diagnosis, treatment and prevention of various diseases.


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