Genetic Testing Services For New Borns
Genetic Testing on Newborns
When a newborn is delivered the doctor may request that certain genetic tests be performed on the infant. These tests are used to examine the newborn's chromosomes, biochemistry and DNA to help the doctor better understand the presence of a genetic disease or other medical conditions. Sometimes these genetic tests can be requested by the parents, after consulting with the doctor, because of a past family history of genetic disease or concerns over the possibility of a medical condition being prominent in the child. These type of tests are different than the routinely ordered bloodwork and screening exams that are routine and performed by most hospitals at birth.
Unfortunately, there are a number of genetic tests that can be done that fall outside the scope of screening exams or do not comfortably fit within the boundaries of normal screening tests. These tests may detect the presence of a problem, but no treatment options are available for the detected condition – nor are there any effective medical treatments that can be ordered to help improve the newborn's quality of life. The reason screening tests gain wide acceptance is when they are used to help perform early detection of a condition in which early treatment may indeed be more effective than waiting for signs of the condition to show up naturally. When early detection can affect the duration of the disease or condition, and/or improve the quality of life of a child the test has the most value.
A genetic test can be performed on various types of bodily fluids as well as samples of hair, skin or even bone fragments. This is because every cell in the human body contains our own unique signature known as DNA. Thanks to advances in DNA processing and analysis, DNA testing can be done on the smallest samples of skin, blood, tissue, bone or hair that contains the root. Some genetically inherited diseases, such as Down syndrome, require the examination of the chromosomes within the DNA for abnormalities. For other diseases that are not passed genetically, but may be mutated or have specific genetic characteristics, a single gene can be analyzed. When cancer is a concern, often multiple genes are analyzed to provide insights into the presence or risk of the disease.
Genetic tests fit into three categories. Some genetic tests are performed because of a family history of the disease – and the disease is passed genetically. Others are performed because of the ethnic background of the child which may make them a higher risk for a certain disease. And finally some are ordered because certain diseases may lay dormant or undetectable until the child reaches adulthood.
Let's take a look at a few examples to help explain these types of tests further:
Family history: Certain diseases are passed genetically. Examples include cystic fibrosis and muscular dystrophy. When these types of diseases are present within the biological family the newborn is often tested for the presence of identifying markers of the disease.
Ethnic group: For some diseases they tend to favor ethic groups, such as sickle cell anemia and Tay-Sachs disease. Certain ethic groups are tested for the presence of such a disease either routinely or on the request of the parents.
Adult onset: Some diseases may be present but not show symptoms or signs until the child reaches adult age. This is the least frequent of all the genetic tests that can be run. Mainly because with most genetic diseases there is little that can be done and sometimes it is better off not knowing.