COMMENTARY

Disclosing Down Syndrome to Pregnant Patients: Must You Give an Upside?

Arthur L. Caplan, PhD

Disclosures

March 25, 2016

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Hi. I'm Art Caplan at the NYU Langone Medical Center. I run the Division of Medical Ethics. If you're a doctor or a nurse who interacts with women who are going to get pregnant, you know that for many, many decades we have recommended testing for Down syndrome to older women. Down syndrome has an extra chromosome involved, is a very common congenital disease among the genetic diseases, and leads to intellectual impairment. It can lead to heart defects, higher rates of leukemia, and other medical problems. People have said that if you're a female older than 35 years of age, you should get a test that involves amniocentesis—a needle is placed into the abdomen to withdraw fluid from the amniotic sac, which contains fetal cells that you can examine—or other tests that involve surgery or invasive procedures to get fetal cells.

This has been going on for a long time, and the testing has produced a result. Probably as many as 80%-85% of people who get a positive diagnosis end that pregnancy. One reason that women seek abortions is because they don't want to have a child with Down syndrome. Recently there has been a movement among people who have had children with Down syndrome to say, "That rate of abortion indicates bias. It's not really choice. It's fear of Down syndrome. It's prejudice against Down syndrome." Some families who have had children with Down syndrome say that they mean a lot to their family; that it has been a great experience to have a child even though the child has Down syndrome; they accomplish a lot, they're happy, and people have the wrong view about it.

Some have gone further and started to change state laws to say that when you get a positive test for Down syndrome, you are required to get in touch with the Down syndrome associations in your state and get the message that balances the bias that no one wants a kid with Down syndrome. Remember that when we test for Down syndrome, in medical terms, we say that you're at risk. We don't say that you have the opportunity or the benefit. We say that you're at risk. What these families have done is pass laws in many states saying that people should be counseled in a fair way, in a more positive way. That's interesting, because we never had genetic counseling that has a spin. The argument has always been to make it neutral. When you talk to somebody about what their options are with respect to reproductive choice, you don't try to bias them. You just give them the information.

However, with an 80% abortion rate, many folks would say that something is going on that goes past giving information; otherwise, more people would choose to continue a pregnancy knowing that it was a child with Down syndrome. What's making this issue really heat up is not just the new state laws, but a new way to get fetal DNA, which is out of the mother's blood. Fetal cells are there. It's called cell-free genetic testing. You can isolate these cells. You don't have to do the amniocentesis, chorionic villus sampling, or other procedures. You can just do a simple blood test. Pretty soon, it's not just women over 35 who are going to get tested for Down syndrome; any woman who is pregnant is going to get a genetic test as part of routine care. Doctors are going to be asked increasingly by patients what they should do about Down syndrome.

What do I think about it? My view is that you shouldn't be telling people that they have to go to X or Y or Z website, but you certainly can offer it. There's nothing wrong with saying that there's information out there about Down syndrome. You can meet people who have a kid with Down syndrome and see what that has meant in their lives. Giving people options is great. Mandating that they have to get information one way or the other is not the way to go. With cell-free genetic testing, more and more genetic conditions that a fetus might have are going to start being detected. We're going to get into arguments about what to do if a child is an albino or what to do if a child has XYY syndrome or many, many other conditions that aren't clearly diseases and that aren't incompatible with a happy and satisfying life for the individual.

The technology is coming, which is going to make it easier to test the fetus and to test earlier without risk to the mom. That's the good news. The more controversial, ethical news is that we're going to have to decide whether we are going to spin that information and require them to listen to certain messages or try to retain a neutral stance and let patients decide what they want to learn, what they want to hear, and make choices based on how far they want to pursue the information. I'm Art Caplan at the Division of Medical Ethics at the NYU Langone Medical Center. Thanks for watching.

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