Glossary of Diagnoses and Terminology

The answers you desire with the compassion you deserve. Here you will find comprehensive information about congenital anomalies — written for families experiencing the emotional complexities of the diagnosis.

Genetic Testing

Genetic Testing refers to medical tests that identify changes in an individual’s chromosomes, genes, or proteins. There are several different types of genetic testing, including, but not limited to:

  • Diagnostic testing, which refers to tests used to confirm the absence or presence of abnormalities and rule out or provide a diagnosis.
  • Carrier testing, which refers to tests used to detect the presence of genes linked to genetic conditions that can be passed from parent to child.
  • Prenatal testing, which refers to tests used to detect the presence of abnormalities in an unborn baby’s genes, chromosomes, or proteins. Amniocentesis, chorionic villus sampling (CVS), and maternal serum screening are all types of prenatal testing. [73]