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Will Down Syndrome Disappear?


From left to right: Brian Skotko, Kristin Skotko, Allison Hanselman. (By Brian Skotko)

What would the world be like if there were no more people with Down syndrome?

That's the unsettling and provocative question posed by Brian Skotko in an article published online, ahead of the print edition, in the Archives of Disease in Childhood (one of the British Medical Journal publications). Skotko, a genetics fellow at Children's Hospital Boston whose work has been informed in part by his having a sibling with Down Syndrome (DS), notes that as prenatal screening tests for the condition have improved over the past 15 years, the number of babies born with DS has declined dramatically. As the study reports, "in the USA, there would have been a 34% increase in the number of babies born with DS between 1989 and 2005, in the absence of prenatal testing. Instead, there were 15% fewer babies born [with DS], representing a 49% decrease between the expected and observed rates."

That's more surprising when you consider that more women have waited until they're older to have babies, a situation that should theoretically lead to more babies with DS, as older mothers are more likely to have babies with the condition.

As still more sophisticated blood tests currently on the horizon will allow for noninvasive screening during the first trimester of pregnancy (as opposed to the current, invasive tests such as amniocentesis that are administered well after a woman's pregnancy has become physically obvious to others), Skotko notes that more and more women will likely opt to terminate pregnancies upon learning their babies will have DS. As it stands, he says, 92 percent of women who learn they are carrying babies with DS opt to abort. Still, more than 400,000 people in the U.S. have Down syndrome.

Skotko writes that many physicians and others in a position to counsel pregnant women are ill-equipped to discuss the implications of having a baby with Down syndrome and may, inadvertently or otherwise, steer women toward aborting such pregnancies.

Skotko's observations regarding Down syndrome have implications far beyond that isolated condition. He writes:

Where should our professional organisations draw the line? Should expectant parents be able to select out fetuses with an undesired sex? Should fetuses with genes that predispose them to adult breast cancer be prenatally identified? Should couples in the future be supported if they wish to terminate fetuses with genes correlated with sexual preferences? The age is swiftly coming where not all possible technologic advances may bring welcomed change.

And, he continues,

Parents who have children with Down syndrome have already found much richness in life with an extra chromosome. Now is the time for the rest of us to discuss the ethics of our genetic futures.

Your thoughts?

By Jennifer LaRue Huget  |  September 16, 2009; 7:00 AM ET
Categories:  Family Health , Motherhood  
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Comments

As the father of a six year old who has DS, I can tell you that our life has been enriched in ways we can't even begin to describe. There are many who choose to not bring a DS child into the world because they feel the child will not have a rich life or will cause untold pain on the family involved. In the face of the challenge of knowing in advance that he would have DS, we chose to bring him into the world anyway. We have heard everything from "what a brave thing to do" to "what a selfish thing to do". The bottom line is that we strongly agree that parents in our position should know that they do have a choice and that the choice to keep a child with DS, while challenging, is also rewarding. The best way to understand what people with DS bring to the world is to meet them and try to understand what they contribute to the world. If you'd like to meet someone with DS, go to http://www.youtube.com/joesvillage

Posted by: boosdad | September 16, 2009 10:36 AM | Report abuse

I'm curious where the statistic of the 92% termination rate came from. I feel as though that number is potentially very biased as many couples who know that they would continue a pregnancy with Down syndrome choose not to undergo diagnostic testing.

Posted by: geneticcounselor2 | September 16, 2009 11:49 AM | Report abuse

geneticcounselor2:

I agree. My wife and I had the option of having the amniocentesis, but decided it was a waste and too risky as the results would not have made a difference of whether or not we would carry the baby full term. At some level, those who opt for the test are more likely to abort based on unfavorable results.

Also, DS has varying levels of affliction and an amniocentesis does not provide the parents with knowledge of how severe their child will have the disease. Many who have DS lead capable, happy, rich lives that would have otherwise had been taken away from them had they been aborted.

Posted by: anti-elitist | September 16, 2009 12:56 PM | Report abuse

The 92% comes from people that do go through with the testing, it does not take into account people that opt out of it altogether.

It was only 6 years ago that markers were found in my ultrasound - I had already decided not to have an amnio - and I ended up having one then and there based on fear. The doctor/counselor never stopped to ask questions - just "we can do this now and know for sure" not "what would you do with the info". It never occured to me that they thought I would terminate. I didn't realize that until after when I said I never would have anyway... and the counselor proceeded to give us more opportunities to "opt out" by telling us other people had terminated - that very week, and giving us out dated info. I am glad my moment of weakness didn't harm my precious girl. She is such a gift to all that know her. She has changed me as a mom and as a person. I am so proud of her!

Posted by: gailforcewinds | September 16, 2009 1:05 PM | Report abuse

"Parents who have children with Down syndrome have already found much richness in life with an extra chromosome."

Isn't it enough to have family and friends pressuring couples to have children at all? Is there nothing that is considered personal "enough" to be handled by the participant(s), alone?

Posted by: Skowronek | September 16, 2009 1:30 PM | Report abuse

We had twins and one had DS. Selectively terminated the one. It was hard go through with it, but after doing the research, the decision was not that difficult. True, there is a wide range of levels in DS and it makes you wonder.

Interestingly, when doing the research, we found a strong bias to having the baby. After digging deeper, we learned that families that are struggling with DS, for money or health reasons, generally don't join groups, blog or otherwise speak out publically about their hardship.

How many heart surgeries can you deal with in the first years of your babies life? And would you want to talk about it?

It is a very personal decision and I hope it stays that way.

Posted by: riskyroad | September 16, 2009 1:43 PM | Report abuse

I think that 92% also includes a not insignificant percentage who would have continued the pregnancy if it was "just" Down Syndrome. Trisomy 21 has a tendency to come with some severe defects to the heart and other organs, which may result in short life filled with many painful surgeries rather than the full and rich lives enjoyed by the relatives of the commenters here.

I, for one, welcome the advances in prenatal testing, as I am the type of person that likes to be prepared.

Posted by: skm1 | September 16, 2009 1:53 PM | Report abuse

I believe that is the point of the article. It is personal, but should be a well informed choice. Most doctors are not in a position to do that. With the ability to give these results, there is a responsibility that goes with it so parents don't live with regret - I suppose either way they decide to handle the results.

BTW - there is a waiting list for adoption in the US for kids with DS. Yet another option, but another thing rarely mentioned by the docs.

Posted by: gailforcewinds | September 16, 2009 1:59 PM | Report abuse

We learned much from our genetic counselor and little from the doctors. They had training in many religions and great perspective. We had markers for other problems which made our decision easier.

Getting the double amino we hell BTW. They have to inject one sack with ink to make sure they don't get the two tests mixed up. The needle is in there for a long painful time, even though it is really only a few seconds.

The whole discussion of eugenics and the Pro-life movement makes this so hard. I some times regret an abortion I had years back, but I'll never feel that way about the selective reduction (what a strange term).

Posted by: riskyroad | September 16, 2009 2:11 PM | Report abuse

This prospect saddens me. One of my sons is on the spectrum for autism and is in a special needs program. One of his class mates has Down syndrome and is a wonderful little boy. I think my son's life is the richer for having known him and, I would hope, vice versa.

Like others, I would note the 92% rate is 92% of detected cases of Down syndrome. We made the decision in advance to skip testing, mainly on what I've since learned to be outdated information on the risks of miscarriage. One would have to factor in the fraction of parents who forgo testing to get an accurate percentage of aborted fetuses with Down syndrome.`

BB

Posted by: FairlingtonBlade | September 16, 2009 2:12 PM | Report abuse

I am eighty years old. We have seven children -- all of them “normal.”
But my Father’s younger sister, my Aunt Ella who was born in 1907, was (as then identified) “mongoloid.” She never became capable of supporting herself and when my Grandmother died in 1933 she made her three “boys” promise that they would take care of their sister Ella.
They did. Aunt Ella rotated at six-month intervals to live with the families of her three brothers. As a youth and teen-ager I must confess that I was not very patient with, or understanding of, my Aunt Ella each time her turn came around to live with us.
In 1946 Aunt Ella committed suicide by hanging herself in our attic.
For those parents who talk of the joy that their child, with DS, brings to their life, I suggest that they might consider the prospect of that same child twenty, thirty, forty or more years in the future, when many -- if not all -- of the caring family members may be gone and that aging DS adult will face extreme difficulties. Please prepare. Prepare for the day when familial bonds may not be there to support that person.

Posted by: zickezacke | September 16, 2009 3:07 PM | Report abuse

This is in response to Riskyroad... Did you ever consider adoption for your baby? There is a waiting list 200 strong for babies with Down syndrome, in America. Instead of taking the babies life, because you did not want to deal with this, you could have given your baby to someone who is waiting for this, and can deal with the different things that come up. Here is an awesome video sharing the beauty of adoption. http://idscforlife.wordpress.com/2009/06/16/the-adoption-option/

This is in response to your post where you said the following:

"We had twins and one had DS. Selectively terminated the one. It was hard go through with it, but after doing the research, the decision was not that difficult. True, there is a wide range of levels in DS and it makes you wonder.

Interestingly, when doing the research, we found a strong bias to having the baby. After digging deeper, we learned that families that are struggling with DS, for money or health reasons, generally don't join groups, blog or otherwise speak out publically about their hardship.

How many heart surgeries can you deal with in the first years of your babies life? And would you want to talk about it?

It is a very personal decision and I hope it stays that way."

Posted by: smacson | September 16, 2009 3:42 PM | Report abuse

Thank you ZickeZacke for telling us exactly what the doctors are telling parents with a prenatal diagnosis today---stories from the ancient past. TODAY adults with Down syndrome are supported in independant living arrangements, they marry and few are relegated to living with relatives who don't want them. We are less than 50 years from the 'norm' of institutionalization...and depression is diagnossed and treated, so suicide isn't an every day occurrance. Actually if a study were done on 'typical' adults suicide rates vs. adults with Down syndrome, I am sure it would be less than 1% of people with DS feeling so outcast by their own family to believe killing themselves was best. I am sorry, I'm sure it was traumatizing to your family--but telling somebody they should terminate based on THAT story is the same BIASED information Medical Professionals are providing to their patients..thank you for demonstrating that for us.

Posted by: smcelwee1 | September 16, 2009 3:53 PM | Report abuse

It's curious that the column limited itself to Down's Syndrome. As technology advances, pre natal testing will be able to reveal just about any birth defect that exists. Simply abort the imperfect, and bingo, "no more birth defects."

It's not as if we have eliminated the causes for birth defects. All we've done is eliminate the little humans unlucky enough to have those defects.

Posted by: Curmudgeon10 | September 16, 2009 4:09 PM | Report abuse

Riskyroad,

I would like to respond to your comments about parents who endure financial and medical struggles due to their children with Down Syndrome. My son was born in January 2006. A blood test during my first trimester revealed that he may be born with DS. We did not choose to do an amnio. And so when he was born and then diagnosed, it was an unbelievable shock. But we took on the challenge and have never regretted one moment. He has faced stomach issues, pneumonias, feeding issues that required a g-tube, as well as several heart defects. But we faced them as a family and one that has struggled financially. At this writing, my husband has been out of work for 21 months and we are struggling to get by. We have stacks of medical bills that we can send only a few dollars a month. We've cut back on frivolous things and buy store brand instead of name brand. But would we ever go back and do things differently and not have him? Never! I have been asked if we could take the Down Syndrome out of him, would we. Definitely not. The DS makes him who he is. And despite the times when he makes me want to pull my hair out, he is the most adorable, sweetest, funniest, most loving child you could ever meet. I have people apologize all the time for our burden. Hell the Dr who diagnosed him apologized to me. Why? He is absolutely perfect. We all have flaws, but some have to work harder to overcome theirs.

Oh and about joining groups....we belong to and paticipate in as many DS related groups and activities as we can. We are not ashamed of our son and are happy to bring awareness about DS to all those ignoratn people who think a person with DS has nothing to offer the world.

If you would like to know more about my son and his life, visit his site.
www.caringbridge.org/visit/noahflagler

Posted by: hpy4evrmor | September 16, 2009 4:16 PM | Report abuse

I would like to point out that whoever is vetting the comments appears to be choosing to post only those that support the general position of "I have a DS child and it's a wonderful experience".

While that opinion forms one part of the total collection of likely and valid opinions, I would point out that I submitted a post about the issues of freedom of access to medical technology, and freedom of self-determination for patients and families and their doctors, which this article raises.

My post was respectful and matter-of-fact in tone, and was relevant to issues raised by the article, but was not posted.

The fact that it was not posted leads me to wonder whether this entire exercise of article and discussion board is merely a vehicle to advance one, particular point of view on the topic, to "entertain-educate" the readers into a pre-conceived, "correct" point of view.

Posted by: TQWoods | September 16, 2009 4:32 PM | Report abuse

Ninety-two percent.

Yeah, all this talk about death panels is a vicious lie!

Posted by: ooyah32 | September 16, 2009 4:42 PM | Report abuse

TQWoods: Please try posting your comment again. We aren't "vetting" the comments, and we would never exclude one on the basis of its content or stance--only if it broke the rules listed under "Post a Comment."
Thanks,
Jennifer

Posted by: Jennifer LaRue Huget | September 16, 2009 4:52 PM | Report abuse

Down syndrome is one thing, gender or sexual orientation is another. When we're talking about a lifelong genetic condition that disables a person, abortion is probably in the best interest of everyone. When we're talking about gender, eye color, or sexual orientation--none of these things are a disease or disabling. Not even breast cancer is a lifelong condition. When we find out about something like DS in a fetus, then abortion should be fine. When we find out about eye color or breast cancer predisposition, you have the baby, but now you know what to prepare for or prepare them for.

Posted by: crzytwnman | September 16, 2009 4:53 PM | Report abuse

Having worked with many couples who have been in this situation, i just want to say that it is not a decision that anyone has made easily. Regardless of their choice, all couples have given the situation much thought. What is best for one family may not be best for another. It is hard to judge someone without having walked a mile in their shoes. Riskyroad, I hope that you were able to find a good support system during and after. The situation often feels isolating, but as the article suggests, may be more common than people realize as it is not often talked about.

Posted by: geneticcounselor2 | September 16, 2009 4:54 PM | Report abuse

Women should be allowed to terminate for whatever reason they see fit. That is not a decision any of us should make for them.

I have a special needs child who is wonderful, but I cannot handle another one, mentally, emotionally, financially or physically. It is exhausting. We chose to be sterlized rather than risk another pregnancy.

It is wonderful, but it's also almost impossible some days. And we are a well off, married couple.

Posted by: Marimom | September 16, 2009 5:09 PM | Report abuse

Having worked with many couples who have been in this situation, i just want to say that it is not a decision that anyone has made easily. Regardless of their choice, all couples have given the situation much thought. What is best for one family may not be best for another. It is hard to judge someone without having walked a mile in their shoes. Riskyroad, I hope that you were able to find a good support system during and after. The situation often feels isolating, but as the article suggests, may be more common than people realize as it is not often talked about.

I just wanted to ask, who's shoes did those who aborted walk in? Those of us raising children with DS are the ones wearing the shoes...

I had an amnio, I wanted to be prepared. Two weeks later I got a call apologizing for the fact that my son does indeed have DS. I adore this boy. I adored this boy before he was born and his siblings all adore him. I've never regretting having him. He is severely impacted, does not speak, or read or write...but he does have value. He is funny, charming, playful, cuddly and loves beyond measure. He never judges, despite the many who judge him and those like him.
I'm sorry for those who feel the risk is to great to take. You'll never know what you are missing.

Posted by: shesaidthat | September 16, 2009 6:15 PM | Report abuse

Though the issues are quite different, this discussion reminds me of the raging debate within the deaf community: the fear that improved cochlear implant technology will end deafness, and with it all of deaf culture.

Rationally and emotionally, I am unconvinced that parents "should" bring into the world and raise a child that has known severe handicaps.

The slippery slope is obvious: what are we going to start calling a "severe" handicap. But I think parents are well placed to make that decision for themselves; some people will draw the line in a different place then others, and that's OK, because at the end of the day, it's the parents who have to (literally) pay for their choice.

Posted by: DupontJay | September 16, 2009 6:50 PM | Report abuse

The statistics quoted here are very sad. Having treated infants with Down's Syndrome in major children's hospitals in the 80's, I can attest to the struggle that families faced in the bad ole days. Today, there are so many individuals, perhaps more by the strength of love and commitment of their families, with Down's Syndrome who live rich and sometimes nearly independent lives. There are more treatment modalities, educational support, access, so many things that have not been previously available. Pre natal testing and the decision to abort is a terribly personal one. And while there are families who have been able to offer their loved one a lot, not every woman or family is equipped to do so.

Posted by: ddzeke | September 16, 2009 7:34 PM | Report abuse

Again I ask, What about adoption???? Why isn't anyone saying anything about adoption. Killing is not your only choice! There is a list of 200 families who want to adopt a child with Down syndrome. Why not let them?? Riskyroad, I too hope you have found the support you need. A mother who is pregnant with a baby with Down syndrome, has a baby with Down syndrome the rest of their life. Whether they are alive or dead, they are still a very big part of your life. You can not take it away. I do pray you have good support. Down syndrome never goes away.

Posted by: smacson | September 16, 2009 7:41 PM | Report abuse

As a parent of a kid with DS, I've learned that a lot of the issues with these kids in the "bad old days" had to do with comorbid health problems that aren't such an issue now For instance, a lot of people with DS have hypothyroidism from infancy, and untreated, this alone can cause serious developmental delay. Now they can be easily treated. Many babies with DS have heart abnormalities that in the past would have kept them from being active and engaging in the world (which is also true of hypothyroidism), which would have interfered with learning. Those can be treated surgically now. And that's before considering the role of early intervention and therapy. All I ask is that people in this situation have access to all the information, not cherry-picking for heart-warming stories but not the gloom and doom stories from the past either.

Posted by: aallen1 | September 16, 2009 8:34 PM | Report abuse

To Fairlington Blade, who said, "One would have to factor in the fraction of parents who forgo testing to get an accurate percentage of aborted fetuses with Down syndrome."

Based on the numbers provided (a 15% decrease in babies with DS versus the 34% increase that would have been expected absent prenatal testing), 36.6% of fetuses with DS are being aborted as result of prenatal testing (assuming there is no other cause in the difference between expected and actual births of DS babies, such as a disproportionate increase in miscarriages of fetuses with DS relative to all miscarriages due to the increased average age of pregnant women [I'm just hypothesizing there; I don't have any reason to think that's the case; it's just a plausible-sounding possibility]).

The math: the base number of DS births from 1989 is 100%, the expected number in 2005 is 134%, the actual number in 2005 is 85%. Divide the missing 49 percentage points (that is, 134 minus 85) by the expected 134, and you find that 36% of the expected babies with DS have "disappeared," presumably because of abortions after prenatal testing.

Of course, some of the nonaborting mothers are probably not "forgoing" amniocentesis based on a decision that they would have the baby anyway; they're just not in a high-risk group that would be offered/encouraged to have the test. So you can't assume that all of the remaining 64% of DS babies (thatis, 100% minus the 36% aborted as a result of prenatal testing) were born due to a conscious decision by the parents to either have the baby after testing or to forgo testing because it would not affect their decision to keep the baby.

As for Jennifer's statement that the decrease in babies born with DS compared to the expected number is "more surprising when you consider that more women have waited until they're older to have babies," that factor should have been calculated into the original article, so it is not "more" surprising. If Skotko does not take into account the increasing age of the mothers in calculating the expected increase in babies with DS, he shouldn't be writing articles like this, a peer-reviewed publication like Archives of Disease in Childhood shouldn't be publishing it, and we shouldn't be bothering to discuss it.

Posted by: dc-native | September 16, 2009 8:53 PM | Report abuse

anti-elitist: DS is not a disease and those who have DS are not "afflicted". It is exactly comments like this that breed an ignorant public.

Posted by: hatsat | September 18, 2009 9:17 PM | Report abuse

TQWoods: I see all kinds of "this entire exercise of article and discussion board is merely a vehicle to advance one, particular point of view on the topic" It's not just this topic. It happens all the time.

Posted by: hatsat | September 18, 2009 9:19 PM | Report abuse

God gives life, and He alone should take it. All talk of abortion is a human effort to take that into our own hands.
I have a precious child with Down Syndrome, as precious as my other children. God has a purpose for each person. If we let Him, He will fulfill it. Some people talk of human rights violations... what is more violent than to kill a precious baby when it hasn't been born yet simply because someone doesn't want it to "disrupt" their lives? Economics? Hardships? God promises that we can trust Him to meet our needs. Our hardtimes are good times when He is with us. May God help us. Parents are supposed to protect their children, not kill them. The smaller and weaker they are, the more they need our care and protection.

Posted by: lkotvas | September 19, 2009 3:26 AM | Report abuse

Especially to Risky road- but to every parent. You do not know the future of any of your children. Having children is a risk. My Sydney was born with DS in 2005, we did not have the pre-diagnosis. The first question from the "social worker" was "will you be putting her up for adoption". i was more "floored" by that than the diagnosis.

Sydney was born healthy, no heart surgery needed. She struggled with RSV her first year, it was scary but you know what, other kids get very sick during the winter, not just kids with DS. Your perfect child could have a near drowing incident or a car accident and end up needing help and support for the rest of their lives... i wonder what would happen if we could "screen" for those before a baby is born? what if you found our your child will struggle with cancer or diabetes- abort? Although i think it matters little to my point, i am pro-choice.

Sydney is the youngest of 4. Do i sometimes lament about her future, the unknown? Will i have less freedom as an older person, will i be taking care of her when i am elderly? I don't know, but i also don't know if my "perfect" 10, 8 and 6 year olds will reach their full potential and they have every advantage that a child could have. One of their advantages though is Sydney who teaches them to be gentle, to appreciate the differences, the strenth and weaknesses of others. She has made us all better people and this planet could use a few more of those.

Posted by: jenjvacca | September 20, 2009 10:13 AM | Report abuse

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