Our office offers genetic testing for both pregnancy planning and hereditary cancer syndromes. Carrier testing can help you and your doctor determine if you could pass serious inherited health conditions to your child. Family history is helpful, but the majority of carriers have no known family history of the condition since both parents have to carry a gene in order to have an affected child. We offer broad options for testing, including a basic panel of 3 common conditions, including Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X. The next level of testing includes these 3 conditions and also other conditions that are more common in a variety of ethnic groups. Our most detailed panel of testing includes 176 conditions. This information could be helpful in planning for conditions that could require early treatment, conditions that could cause intellectual and/or physical disability, conditions that could shorten life span or affect quality of life, and conditions for which there are limited treatment options. Some couples might consider fertility treatments with preimplantation testing.
In addition, we offer NIPS (non-invasive prenatal screening) through our office. This screening test can be done as early as 10 weeks of pregnancy, and determines if your baby is at risk for certain chromosome abnormalities, including Down syndrome (Trisomy 21), Patau syndrome (Trisomy 13), or Edwards Syndrome (Trisomy 18). It can also screen for an abnormal amount of sex chromosomes, resulting in potential health issues.
Cancer genetic testing could determine whether you carry an inherited mutation which could significantly increase your risk of certain cancers, such as breast, ovarian, colon, pancreatic, prostate, thyroid and others. If you are found to have a mutation, you could consider early and/or more detailed screening tests, risk-reducing medication, and possibly risk-reducing procedures. In addition, this information could tell siblings, children, and other extended families if they are at risk for similar cancers.