What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is an inherited hormone disorder that affects children and adults worldwide. The most common form of CAH is estimated to occur in 1 in 15,000 newborns and is the type discussed here. In...
People that pursue preimplantation genetic testing for monogenic disorders (PGT-M) with in vitro fertilization (IVF) usually do so to avoid passing down a genetic risk to their biological children. They typically do this by choosing not to transfer embryos found to...
When a doctor or genetic counselor orders a genetic test, the intent is to determine if their patient has a change in a specific gene that could explain their symptoms or that has been passed down through their family. Changes in genes, or mutations, can alter the...
For families and providers alike, one word can drastically complicate discussions about genetic testing results: “mosaicism.” In biology and medicine, mosaicism refers to a mixture of cells with different genetics within an organism or an embryo, some normal and some...
October is Breast Cancer Awareness Month, but some of you have breast cancer on your minds all year long. Maybe you’re a breast cancer survivor or your family members have had the disease. Five to ten percent of people with cancer have an inherited form, such as...