Preconception testing predicts the health of your baby

“Are you hoping for a girl or a boy?” That’s the question often asked of newly pregnant couples. In reply, the typical couple says, “It doesn’t matter—as long as the baby is healthy.” Thanks to modern science, couples can undergo preconception testing, also called preconception carrier screening, to determine whether or not they are at risk for passing on a genetic disorder to their future children.

The team of reproductive endocrinologists at our Nashville Fertility Center is dedicated to educating couples on the benefits of undergoing preconception testing.

Preconception testing: What’s a carrier?

A carrier is a person who “carries” a change in a gene (mutation) that’s linked to a genetic disorder. Carriers don’t have symptoms of the disease, but they can pass on the gene to their future children. When a child inherits a mutation from both mom and dad, they have the disease. With each pregnancy, the child has a 25% chance of having the disease and a 50% chance of being a carrier.

What types of diseases are tested?

Genetic carrier tests help identify common hereditary disorders such as cystic fibrosis, SMA – spinal muscular atrophy, sickle cell disease, fragile X syndrome and Tay-Sachs disease.

Should I get tested?

Your Nashville Fertility Center physician can help determine if you’d benefit from getting tested. Typically, we recommend preconception testing to any potential parent, but especially in these situations:

• You have a genetic disorder.
• You already have a child with a genetic disorder.
• Your family has a history of a genetic disorder.
• You’re from an ethnic group that’s known for having an increased risk of passing on certain genetic disorders.

Is testing complicated?

Not at all! Carrier screening involves testing a sample of blood or saliva.

My future child is at risk for having a genetic disorder. What are my options?

A genetic counselor can help walk you through the various options available to you. These include proceeding to get pregnant with the option of IVF with preimplantation genetic diagnosis(PGD), IVF using donor eggs or sperm, and adoption.

While there is no test that can screen for all possible genetic diseases or birth defects, preconception carrier screening can give you valuable insight into the health of your embryos. Contact us to learn if you’re a candidate for preconception carrier screening.