Mercy Gilbert Medical Center, in conjunction with the Arizona Department of Health Services (ADHS), performs standard genetic testing in newborns to identify 29 disorders. In doing so, ADHS is able to detect rare, inherited disorders in Arizona newborns and provide follow-up services to save lives and improve quality of life.
Screening categories include:
Diagnostic testing is used to identify or confirm the diagnosis of a disease or condition in a person or family. It is sometimes helpful in determining the course of a disease and the choice of a treatment option. Examples include chromosome studies, direct DNA studies and biochemical genetic testing, among others.
Genetic Carrier Testing
Carrier testing is done to determine whether a person carries one copy of an altered gene for a particular disease. Because everyone has two copies of their genes - one from each parent - a carrier of a genetic disorder has one defective copy and one normal copy of a gene, which is enough to prevent the disease. However, if two carriers with the same gene defect have a baby, there is a 25 percent chance that their child will receive two defective genes and develop the disease. Conversely, there is a 75 percent chance that the child will be healthy, which explains why a defective gene can be transmitted through multiple generations before it's expressed.
As part of state public health programs, a newborn screening involves a heel prick that is performed within the first five days after birth. It is intended to identify those infants at risk for certain genetic disorders for which early diagnosis and treatment are available. Please note this kind of testing does not identify whether a child has one of these disorders. Rather, it aids in the identification of those who are most at risk for having one. If a newborn screen comes back positive, further diagnostic testing is usually required to confirm or specify the results. Counseling is often offered to parents upon confirmation of a positive screen.
These noninvasive screening tests are performed early in pregnancy to look for problems in the developing fetus. Such problems may include birth defects within the heart, chromosome abnormalities such as Down syndrome, and inherited diseases.
For more information, please contact the Laboratory at (480) 728-7080 or visit www.aznewborn.com.