Genetic Testing: Don’t Be Bullied into an Amnio

Alternatives to Amniocentesis and CVSWomen over 35 and those with a high chance of having children with Down syndrome, cystic fibrosis, sickle cell anemia, or other genetic disorders are often faced with the decision to have an amniocentesis or chorionic villus sampling (CVS), and both require inserting either a really long needle or tube into the fetus through the mother. Ouch! But more disturbing than that painful visual is the idea that the very tests that are supposed to tell you if you will have any genetic complications with your pregnancy can actually cause major complications—by way of infections or even miscarriage.

It’s shocking to me that not everyone is being told about the wonders of non-invasive prenatal testing, or genome sequencing, which can now be done via a simple blood draw through the mama-to-be’s arm. A friend of a friend is due in September, and I couldn’t believe it when I was told that her doctor was insisting she have either an amnio or CVS purely because of her age (she’s 35).

That’s upsetting to me because there are so many more elements that contribute to whether you have genetic disorders—um, like genetics! Your and your partner’s ethnic background and family history are the most important factors. Both parents need to screen positive for a genetic abnormality for your child to inherit the condition, and even then there is only a 25 percent chance your baby will have the disease.

So when this woman was unsure whether she wanted to have either an amnio or CVS done because of the risks both bring to the baby, she spoke to a genetic counselor (thank God!), who then told her about the risk-free blood test version. Her OB never even mentioned it as a possibility! It goes to show you that unfortunately you can’t always rely on your doctor to tell you everything. You need to educate yourself as much as possible about all things pregnancy so you can advocate for yourself and your baby.

TELL US: Has your doctor told you about non-invasive prenatal testing? Has a doctor insisted you get amnio or CVS?

Image of woman and doctor courtesy of Shutterstock.

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