Prenatal Genetic Testing

How I Practice Video Series 
Dr. Mary Norton, MD, FACOG

Prenatal Genetic Testing from ACOG on Vimeo.


Transcript: Prenatal Genetic Testing

When I talk to patients about prenatal genetic testing, I always start the conversation by reminding them that most babies are born healthy and without any kinds of birth defects. There’ve been so many advances in genetics recently that we talk to patients about all kinds of testing for all kinds of disorders, and it’s important that they not be alarmed by that, so I do always remind them that the vast majority of babies will be born healthy and that the fact that I’m offering these tests does not mean that they are at high risk. I think it’s also, then, next, important to explain that some patients want to have testing for birth defects and want as much information as they can get about the possibility there could be a problem, where other women choose not to have any kind of testing at all, which is completely and totally fine and is their choice, whether they want to have any testing done. For women who do want to have testing and they have more questions, there’s two choices: one is they may choose to have a diagnostic test, which gives the most information and is the most accurate, but does involve an invasive procedure like an amnio or a CVS, but I do mention that this is an option for any pregnant woman and offer it to all of them. For the majority of women, though, they are happy to have, and prefer to have, a screening test to give them more information about whether they are at higher risk than average and whether they might want to go on and go down that diagnostic test pathway. So, for most women, they are interested in screening tests, and I’ll explain to them the different screening options, and I think it’s helpful to have a pathway that you offer to all patients, which in our practice is the serum analyte screening and ultrasound screening that provides risk for a broad array of pregnancy complications as well as birth defects. So, we offer those tests to our patients and determine, based on those tests, what their risk level is. I think that, although prenatal genetic testing is certainly complicated, it is a pretty straightforward conversation that I distill down into a couple of easy questions: “Do you want to have any kind of testing?”, and “If you want to have testing, do you want to have a diagnostic test that gives you the most information, the most accuracy, but involves an invasive procedure, or do you want to go start with a screening test or starter test to get a better sense of your risk level?” Those two simple questions can usually get to what’s the best option for your patient, and that is how I practice.

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