As medicine and fertility treatments advance, techniques for diagnosing and treating diseases are improving, all the way down to the most fundamental level: DNA. Genetic testing of newborns and pre-screening of adults allows families to learn about the risks of heritable disorders, so that they may be planned for or even treated early. Though some websites offer direct-to-consumer genetic tests, these businesses are not regulated by the federal government. Fertility doctors at a reproductive health clinic are the best trained to interpret the results of genetic tests.
Basics of Inheritance
To fully understand genetic testing and its importance, you may require a little background information about genes and DNA. Genes are units of information that are stored in the coiled strands of DNA. Combinations of genes are used by organisms to grow and develop, and to express traits like hair and eye color. There are an estimated 25,000 genes in the human genome, and some of them have the potential to cause disease and deformity. Normally, each person carries two copies of every gene: one from the mother and one from the father. The exception is genes related to sex-linked traits, which are only inherited from the mother by males.
Some genetic disorders are autosomal recessive, which means they require two faulty copies for the disease to be expressed. If a person has only one faulty copy of the gene, then he or she is a carrier of the disease but is not affected. Carrier testing is a way for parents to determine their child’s risk of developing a certain disease before he or she is born. If both parents are carriers, then their children have a 25% chance of being affected by the disease, a 50% chance of being a carrier, and a 25% chance of having two normal copies of the gene. Cystic fibrosis is an example of an autosomal recessive disorder.
Other genetic disorders may represent Autosomal Dominant traits: if one parent is affected, there is a 50% chance the offspring will be affected as well. Neuofibromatosis is an example of a dominant trait.
For more information about genetic testing or to schedule an appointment for a screening, please visit our website or contact Fertility Centers of Illinois at (877) 499-8730. Proudly serving the Chicago area, our fertility doctors specialize in carrier testing, newborn screening, and in vitro fertilization (IVF).