Down Syndrome Test Raises Questions For Future Moms

By Rachel Gotbaum
Jan 31, 2011, 3:50 PM
15 Comments

(Bianca de Blok/Flickr)

For pregnant women who want to know whether their baby might be born with Down syndrome, there have not been many options. Pregnant women can get what is called a CVS test or an amniocenteses — but both must be administered later in the pregnancy, and both come with the risk of miscarriage.

Only 2 percent of mothers choose to take these invasive tests for Down syndrome. But now researchers say a simple blood test will give parents almost perfect accuracy early in the pregnancy, without the risks associated with existing tests.

The new blood test is not yet available but is raising questions about whether all expectant mothers should be offered genetic tests like these — and how these tests should be regulated.

Guests:

Dr. Brian Skotko, clinical genetics fellow, Down Syndrome program, Children’s Hospital Boston
Maureen Gallagher, Massachusetts Down Syndrome Congress
Wendy Mariner, professor of health law, Boston University School of Public Health

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John

Unlike Down syndrome, Homosexuality is not a disability. It would be as unethical to screen for that as it is to select gender.
http://radioboston.wbur.org Marjorie C.

Over 30 years ago, at the age of 33, I was pregnant with my second child and insisted on having an amnio at 16 weeks to check for Down’s Syndrome because I knew of 3 women my age who had been surprised by Down’s babies. Very surprisingly and most sadly, I was told that our baby had Down’s Syndrome, as well. My husband and I decided to terminate the pregnancy at 21 weeks. The whole episode was extremely traumatic, especially being in mid-pregnancy. I have been waiting for 3 decades for medical science to develop a less invasive test that could be done at an earlier time in the pregnancy.
Cathy

How have we gotten so advanced in life and yet still think we are “doing” the right thing by terminating a child with DS? If the truth were told before these abortion solution docs got hold of patients, then the truth would turn around the trend of a 92% abortion rate. I “was surprised” by having a child with DS and I am thrilled I did not know in advance, because I was the sort of person who would have been mislead into thinking that there was no life worth living associated with this sort of human being. Instead I was surprised by the life of the most amazing child I have ever met. Full of love and joy and incredible potential, although it came slower, it came 110%. It changed my life and taught me how better to love my fellow human being. This is definitely not my idea of what a handicap sounds like. I would urge parents and mothers in general, not to buy into the perfect baby idea. For one, there is no such thing, and for two, you probably would not recognize it. I just adopted a second child with down syndrome from eastern Europe. I would have adopted here in the US but there weren’t any available…she too, is amazingly cool. I would do it all again is my point. But people can’t make accurate decisions when they do not know the truth about life.
k rousseau

You have not mentioned that there are genetic counselors who are trained to give this information to people, Why?
Jessica

From the opening of this conversation you have have squids the coverage for termination. The CVS can be done early as well. We received the cvs and were told there was a material percentage that that our second child; for whom we were ecstatic, may have downed syndrome or a second genetic factor. For 1 month; pregnant; working; functioning as a mom to our first child and a wife; the question of the unknown stopped sleep and was a genuine stress factor. We knew we would keep the baby regardless. But to have the information and not have to compromise vyabliliyy of the fetus would be priceless and a real gift.
mesuba

A friend of mine has a little boy with Down Syndrome, he was born with a heart defect that was typical of babies with DS and he needed to have open heart surgery at just a few weeks old. He also was questioned to have leukemia, which is also typical of children with DS. He was hospitalized many times in his first few years, but now is doing very well. He had years of physical therapy, occupational therapy, along with attending a special school for children with DS. This took a lot of planning, support and money, which luckily they had. Not everyone has this. To be given the option of terminating early, especially for those completely unable to provide such support or to have 7-8 months of pregnancy to find the specialists and set up the care plan is a blessing.

I fully agree that individuals with DS are often healthy, happy, important members of their families and communities, but it can also be a special challenge for families, especially when they reach their later years when dementia and neurobehavioral problems set in. I am a nurse practitioner who worked in a neurology clinic with these patients and often saw elderly frail parents who were at their wits end trying to get control over violent behaviors, which often led to multiple antipsychotic medications and eventual placement in group homes. This is unfair and upsetting to everyone involved.

I fully support an early detection test.
Marie

John, I know homosexuality is not a disability. However, is it not ethical to screen for disability if your intention is to terminate all babies with disability? As a mother of child with Down Syndrome, I rarely see my child as disabled. She is different and has different challenges than other people face. I personally can be careless about my child’s sexual orientation but some people are afraid because they are ignorant or uneducated about homosexuality. I feel the same way about Down Syndrome. Many people are afraid of Down Syndrome because of unknown. I know I was.
kathy

I also have a baby girl with ds. I knew at 11 weeks due to CVS. She is the light of our lives; she is healthy, happy and smart – she spoke at 7 months! She has no physical defects, which i know is rare. But she is a blessing and I would urge anyone who is wondering whether to go forward after knowing – you will never regret going forward. I have met over 200 women with children with DS and they are all thrilled to have them, those that knew in advance and those that knew at birth. These children are a blessing, truly. Which is why there is a waiting list for them in the US. But sadly, in foreign countries, they are abandoned at the hospital, they waste away in orphanages chained to cribs, and are shipped to mental institutions at age 4 or 5 if not adopted. Please visit http://www.reecesrainbow.org to donate or adopt. Their lives are hanging in the balance. peace.
Jerry B.

Unlkike John, I’m not prepared to concede that it would be more unethical to choose to terminate a fetus likely to become homosexual than it would be terminate a fetus with Down syndrome. The lives of people with either condition ought to be viewed as equally valuable in the world. It’s distasteful and disappointing that some people seem to believe otherwise and devalue the lives of people who are simply different.
John

I didn’t state a conclusion that it is ethical to choose to terminate a pregnancy that will result in a child with a disability. I merely stated that homosexuality is not a disability and thus does not belong in this discussion.
Erin

Having earlier testing for parents to know if their newly forming baby will have DS is, within itself, a blessing. As a parent of a child with DS, I would have loved to have had the opportunity to know in advance if my daughter had DS without the more risky testing offered at the time. Would it have changed anything? No. I would still have chosen to keep my child and yet the opportunity to prepare for her would have been welcomed.
I would question though the use for other factors, such as termination of preganancy. I would like to respond to several post I have read.
1) medical issues/financial burden- yes, there is a CHANCE a child with DS may have a heart condition or leukemia and YES that chance is higher then found within the “normal” population. Yet, it is still a chance and something you can not determine until the child is born and after he/she grows. With that, will there be testing to determine if all developing fetuses will have sometype of future medical defect? Thus, the concern becomes and issue of terminating all babies with a higher chance of being born with some form of physical disabilit. I question the ethics of terminiating a pregnancy based on the chance a child may be born with a medical condition.
2) quality of life/elder care- the life expectancy of a person with DS born today is 65; not 35 as previously noted. Children born today can read by age 5, do math, attend regular education classrooms, graduate, go to college, have jobs, get married, etc. Still there is a CHANCE a child with DS may develop demetia or other mental health issues as he nears 65, yet there is also no guaranatee that it will happen.

The fact is that there are not any guarantees. Children born today with DS do not fit the profile that has been forced upon the population by previous medical and mental health professionals of past years.
My “normal” 4 year old could develop leukemia. Would I then wish she would never have been born? I have a cousin who was born without her lower leg, should her mother have terminated that preganancy if they knew in advance of the years of medical issues and hospilzations awaiting them.
It is scarey to have to face rasing any child, esp one born with special needs. I do fear that choosing to terminate a pregnacy because a child has DS will lead to termination of all children that are not “perfect” when advancements one day make it possible.
http://cause-of-our-joy.blogspot.com Leticia Velasquez

Iam raising an 8 year old daughter with Down syndrome, I refused pre-natal tesing since abortion was not an option for my family. The key to lowering the 92% abortion rate of children with Down syndrome is education. Did you know that recent studies at Johns Hopkins and Stanford University with mouse models of Trisomy 21 are holding hope that a drug can be developed within a decade to noramlize the cognition and memory of those with the disorder? And that Dr Roger Reeves of Johns Hopkins holds out hope that this research may provide treatment for the neural degeneration of Alzheimer’s Disease, ane even possible cure for cancerous tumors?
The future looks bright ONLY if we give these babies life and invest in such promising research. Look at the results of the education advances of the last 20 years when we stopped institutionalizing children with Ds and began to mainstream them. Adults who have been in typical educational environments are graduating college, holding down jobs, getting married, excelling in sports, driving and starring in films.
Would anyone have considered these possibilities in the 1970′s?
If you, like Marjorie, feel unequal to the challenge of raising your child with Ds, over 600 families are on a waiting list to adopt your baby with Down syndrome.
Where there is life there is hope.
Peter Gelinas

The blood tests aren’t always accurate. We had a Positive AFP sign for Downs with our first child and declined the Amniocentesis due to risk of induced miscarriage. Ultrasounds also gave one of three indicators for the presence of Downs Syndrome. We didn’t ‘play roulette’ despite our OB’s suggestion of the option to “terminate”. Our Oldest daughter is healthy after all. Had she had Downs she would have been a joy as well. We would have found the love and support needed in raising her.
http://www.idscforlife.org/ IDSCforLIFE

It is sad to think we have come to a time where we decide who should live, and who should die. That is a huge responsibility. Our hearts go out to those, who decided to end the life of their child, and they need to live with that grief. Not everyone would feel they could raise a child with Down syndrome, but since there is a list 200 families long waiting to adopt a child with Down syndrome, the adoption option, is a beautiful choice.

These are very interesting times.
LSheldon94

We have a little girl, who is three. The day after she was born we were told that she has DS. We went through so many emotions. None of which were as powerful as the perspective, joy and compassion that we have experienced since she came into our lives. She is heaven sent. It brought a love into our life that is like no other. When you find out is not the issue. How you react to finding out is your choice. We can only say to those who have found out that the child they are expecting has DS, make sure you learn what you will be misssing out on if you choose not to have that child :)

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Down Syndrome Test Raises Questions For Future Moms