Down Syndrome Diagnosis During Pregnancy

Dr. Brian Skotko
Presenter: Hannah Stanley
Guest: Dr. Brian Skotko
Guest Bio: A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities.


Health Professional Radio – Down Syndrome Diagnosis During Pregnancy

Hannah Stanley: I’m Hannah Stanley, and this is Health Professional Radio. My conversation today continues with Dr. Brian Skotko. This is segment two of four of my conversation regarding Down syndrome. Here’s where we left off. Now, what is the goal in that research and developing? And we might get to a point if we – like I’m involved – but there might come a point where the parameters are very limited. It’s after the child has been born and then that’s when it can be applied, versus in utero. What are the possibilities with this research?

Dr. Brian Skotko:  Since this research has just been done in a Petri dish, an important first step … it’s a long away before we could even answer those questions of, “How will this be applied to humans?”  It will need to next go to animal studies before it goes to human studies.  But it raises the question, “At what points could potential therapy be given?” If it was offered prenatally, the way that expectant parents might respond to this option might be remarkably different from parents who already have a son or daughter with Down syndrome.  So we will have to wait and see.

Hannah:  Now that’s very interesting.  You said that it’ll go animal studies.  Is Down syndrome something that does occur in the animal world?

Brian:  Researchers have been able to make, if you will, or configure mouse models, to replicate Down syndrome.  So that breakthrough in medical science allows us to be able to do experiments in mice before we start to do them on humans.

Hannah:  Okay.  I actually just learned of a researcher here at University of Chicago who gave a mouse celiac for research purposes.  And I thought it was very fascinating, and … that poor mice who can no longer eat gluten.  So this is pretty common practice for research.  But it is not something that occurs, the extra chromosome, in the animal world. 

Brian:  That’s right.  Different animals have different numbers of chromosomes.  So it’s a different genetic makeup in the rest of the animal kingdom than it is in humans.  So Down syndrome occurring in animals is a scientifically-created one, and not necessarily a direct parallel, naturally-occurring one.

Hannah:  But it would allow us to be close enough where we could study those parameters of how it would be taken care of.  But, as you did mention – and it was funny when I was telling people about this over the past few days while prepping for this interview – every single person, every single one said, “Before the baby’s born?”  And I went, “I don’t know yet! [laughs]  Let me get there.”  So this is something that obviously would be fixed and could, based on how this develops, eradicate Down syndrome, potentially at its very core.

Brian:  Yes.  When the hypothetical question is applied to the prenatal world, it does raise these questions that if there was a magic cure for Down syndrome prenatally, how would parents choose?  Right now, Down syndrome can be detected prenatally sooner than ever before and with less invasive options.  And right now, expectant parents who receive a prenatal diagnosis just have three options.  To terminate the pregnancy, to continue the pregnancy and raise the child, or to continue the pregnancy and offer the child up for adoption.

And the latest studies, which are nearly a decade old and only done in three states – California, Hawaii and Maine – show that of those parents who get a prenatal diagnosis of Down syndrome, about 74% choose to terminate.  So the hypothetical question is, “If those same expectant parents instead had an option of we have some therapeutic intervention for a foetus with Down syndrome, would that change their pregnancy decisions?”

Hannah:  I listened to every word you just said, but my brain got stuck on “74% of those who find out early choose to terminate.”

Brian:  That’s correct.  Now, only about two percent of all pregnant women in the United States choose amniocentesis or chorionic villus sampling during their pregnancy, which are the only two definitive ways to diagnose Down syndrome.  But of that small percentage of women who are going through those tests, those who receive a positive diagnosis, based on the latest studies – which, again, are a bit dated – suggest that 74% do choose to make the personal decision to terminate their pregnancy.

Hannah:  You said two percent choose to go that route.  However, it would be a very interesting conversation to have with someone who did receive that news that there was a therapy or a treatment for this that could either minimise or completely take care of, I guess, the Down syndrome and many of the things that go with it.  Now, you did mention that medical science being what it is, a lot of what goes along with Down syndrome has been able to be treated differently and more effectively.

What are some of those medical conditions that kind of piggy-back along with a Down syndrome diagnosis?

Brian:  People with Down syndrome sometimes develop celiac disease, and there are Down syndrome specialty clinics like the one we have at Mass General Hospital – we screen for it, we test for it, we identify it before it becomes an issue for the person with Down syndrome.  Thyroid conditions commonly can play a role, and our goal is to, again, identify it and treat it before it becomes an issue.  There’s oftentimes eye conditions or hearing loss, and again, we’re trying to clean that up so that the person with Down syndrome can maximise their potential.

In babies, we’re looking for heart conditions.  But thanks to advances in surgical techniques, babies with Down syndrome can now have their hearts completely fixed, much like my sister with Down syndrome 33 years ago had her heart fixed and now is leading a full and robust, healthy life.  And what we try to do in our clinic is to not allow the medical conditions that go along with Down syndrome to get in the way.  And we want people with Down syndrome to lead as much of an independent and healthy life as they’re capable of living.

Hannah:  Okay.  So heart conditions – would these be in the category of a CHD, congenital heart defect?  Or is this a separate type of thing?

Brian:  You’re right.  So about 40 to 50% of babies with Down syndrome are born with a congenital heart condition.  But the good news is, only a smaller portion of those need to be surgically fixed.  And of those that need to be surgically fixed, the surgeries are now almost exceptionally successful.  For people and babies born with Down syndrome, we have certain guidelines that we follow.

So, as soon as the baby is diagnosed with Down syndrome, which is almost always evident after birth, if not already diagnosed prenatally, the guidelines are that all babies with Down syndrome absolutely need an echocardiogram, which is one of those tests that can identify heart conditions.  So they are definitely protected by these national guidelines, making sure that we detect those heart conditions as soon as they’re born, so we could take whatever action is needed to make sure they’re living healthy lives.

Hannah:  This is so fascinating to realise.  Now, for those people who do know before that child is born, what can go on prior to birth to prepare that family?  Or are there tests that they can run on that baby before? In addition to the actual diagnosis of Down syndrome, are there things that they can do in utero?

Brian:  I’ve had an opportunity to interview mothers who have gotten a prenatal diagnosis of Down syndrome around the country and asked them, “What was most helpful to you?”  And there were a couple of things that they pointed out.  One, information is power, and they want to make sure they have the accurate, up-to-date, honest, balanced information.  And fortunately, the major national Down syndrome organisations have partnered with the major medical organisations to help produce a booklet called, “Understanding A Diagnosis of Down Syndrome,” which was created by Lettercase.

This booklet is available free for everyone online at, and it’s simply the place to go to if they need that balanced information as they’re trying to decide what decision they should make for their pregnancy.  For those women who have decided to continue their pregnancy, there’s also a whole online set of resources and e-books and chat available for them, and that’s available through

But what I hear from a lot of mothers and fathers is the most valuable information in addition to these great resources is talking to other parents who already have a son or daughter with Down syndrome, to ask those questions, “What does this mean for your marriage?  What does this mean for your other sons and daughters?  How is your son or daughter with Down syndrome doing?  And what impact does it have on the family?”

Hannah:  This has been segment two of four of my conversation with Dr. Brian Skotko regarding research in Down syndrome.  Please stay tuned for the continuation of our conversation.  I’m Hannah Stanley on Health Professional Radio.

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