Details of a Genetics Testing Consultation
In the last post, I mentioned that I often talk with my patients about their options in genetics testing during the first prenatal appointment, but it actually goes much further. The genetics testing consultation is a separate appointment altogether.
If you were my patient, here’s what we’d discuss in this special consultation:
- A detailed health history of both mom and dad to find out if you are at risk of having a baby with a disorder.
- An overview of the tests available to you, the risks of each, and the reasons you may or may not want to proceed with each test.
- Options available to you should you discover that your baby may have a genetics disorder.
Understanding Genetics Disorders
You may remember that genetics are the traits passed from both parents to the child. The mother’s egg and the father’s sperm each have 23 chromosomes, which pair up within each cell of the fetus. Each of the 46 chromosomes contains a number of paired genes, some recessive and some dominant, which define a number of traits. These traits range from the color of the baby’s eyes to blood type.
A genetics disorder can result from a missing or damaged chromosome or gene or when inherited from a parent. Disorders could include Huntington’s Disease, Tay-Sachs disease, cystic fibrosis, hemophilia, Down syndrome, and others.
Types of Tests Available to You