One of the leading causes of infant death is a genetic disease called spinal muscular atrophy, also known as SMA. While SMA is genetic, most people are unaware of the risk of having a child with SMA until they either have a child with this disorder or their SMA...
A person who has a disease-causing variant — also known as a mutation — in one of their two copies of a particular gene is known as a carrier. Carrier screening for specific genetic conditions is a routine part of prenatal care, but patients and providers are...
If you’re seeking assisted reproduction technology (ART) such as in vitro fertilization (IVF) to conceive, you may also wish to test your embryos for potentially serious genetic conditions. Even if you’re not infertile, you may — because of a genetic...
Approximately 200,000 people in the United States are at risk for Huntington disease because they have a parent with the condition. If you are among those at risk, you know that family planning is a complicated prospect. People with Huntington disease, or at risk for...
If you’re considering starting a family, you may have some concerns about possible genetic or heritable conditions that you could pass on to your child. Meeting with a genetic counselor can give you more information and help you decide on next steps, but you may...