You might have recently received a call from a nurse or genetic counselor, perhaps someone you've interacted with before, or perhaps not. Alternatively, you may have logged into your patient profile and come across a test result indicating something like "increased risk," "positive," or "high likelihood."

The outcome might have taken you entirely by surprise, and you might be pondering what steps to take next. It's crucial to note that this blog post serves as a bridge between receiving the initial result and having a conversation with your doctor, and not as a substitute for medical advice.

Finding out your pregnancy has a life limiting diagnosis can be life changing. A recent article dove into the experiences of women and couples after they received a prenatal diagnosis and made the decision to either continue or terminate the pregnancy. This blog post will highlight some of the findings from the article with the intention to spread its message. While it is not frequent a pregnancy is diagnosed with a life limiting condition, it is not a rarity. Even if someone does not personally experience this situation, as a society, we need to increase awareness and overall social support.

Chromosomes are structures made up of our genes. We have about 20,000 genes that need to fit inside every one of our cells. Our genes package themselves into chromosomes in order to fit inside our cells. I like to think of a chromosome as a string with beads on it. The beads represent our genes. If you hold one end of the string and twist the other end, it will coil - this is similar to how genes become chromosomes. If we unravel a chromosome, we get an extremely long piece or string of our genes.

There is a lot of blood work and tests done during pregnancy. This post attempts to break down the testing offered and review the benefits and limitations of the following: multiple marker screening, cell-free DNA screening (also known as NIPT), diagnostic testing, and ultrasound scans. This post is not medical advice and will need to be verified with a person’s doctor.