Friday, November 18, 2011

A New Prenatal Blood Test for Down Syndrome - Some Facts

Note: anything marked with ( * ) is a clickable link to a source of more information on that given subject.

Up until only recently, the only way to know for sure if a fetus had Down syndrome was to have a procedure called an *amniocentesis. During the procedure a needle is inserted into the uterus to extract a small sample of amniotic fluid. (And doesn't that sound like fun?) Now a company by the name of *Sequenom has introduced a new test called *MaterniT21 - a simple blood test using a small amount of blood from the expectant mother, that can determine with a 98.6% accuracy rate if her unborn child has Down syndrome. (Doesn't that illustration just make you want to scream, "Watch out little dude! There's a giant needle headed right at ya!")
Historically doctors suggested amniocentesis' only for older mothers (you know - those of us who have reached the ancient age of "over 35") or those considered at high risk of having a child with genetic issues. As a woman matures, her chance of having a child with Down syndrome increases. That's not to say that younger women can't have babies with Down syndrome - they absolutely can, but it is simply less likely. Most doctors did not see a point in adding unnecessary risk to a younger woman's pregnancy, and the amniocentesis does pose a small risk of miscarriage. 

The new *MaterniT21 test is a game changer. This non-invasive test which poses no more risk of a miscarriage than any other simple blood test can be quickly and easily done for any pregnant woman of any age. Health officials believe this will greatly increase the number of pregnant women who get testing for Down syndrome done. 

Now - This is neither a religious post nor is it commentary on current abortion laws, etc. This is simply a presentation of facts and a touch of personal experience. If a person is faced with a big decision, that decision should be based on facts... updated, current and statistically accurate facts. Facts that could both negatively or positively influence that decision.

In fact, a *press release issued by *Sequenom on October 17th, 2011 states, "We believe that the MaterniT21 LDT will provide physicians and their patients with critical new information to help them make better informed decisions about the patients' healthcare and pregnancies."   

It sounds good on paper, but let's not lose sight of one very important point. The only "critical new information" the test gives patients to "help them make better informed decisions" is whether or not their fetus has Down syndrome. Did you know that currently 92% of people who find out their fetus has Down syndrome choose to terminate the pregnancy? There are no statistics on how many of that 92% received updated and balanced information on what is is actually like to raise a child with Down syndrome... but if my own experience is any indication, it is likely very few of them did.

How much do you know about Down syndrome?

Seriously... how much? Have you spent time with people with Down syndrome or been close with their families, or have you gathered most of your "knowledge" about Down syndrome from how people with the condition are perceived among your friends or in the movies? Is your knowledge based upon a series of medical facts read to you from a list by a doctor, or on talking to people who currently work with, teach or are the family member of a person with DS?  I can guarantee that the information you gather from people who truly know somebody with Down syndrome will be very different than from most medical sources or (God forbid) high school friends or Hollywood.

One of the first things I was told by the doctor who informed me my week-old daughter has Down syndrome is that she may never learn to read. The truth of the matter is that 14% (or 1 in every 7) adult Americans are functionally illiterate. Most of those people do not fall into the "disabled" category, but simply never learned to read. For more information, see the *National Assessment of Adult Literacy website or *this article in Live Science.

I believe that some doctors lose sight of the influence their words have over their patients. While a doctor says "might," it can be all too easy for a patient to hear "will." To prove that when the doctor (in Texas) told me my daughter "might" not read, he actually meant there was a very, very, ridiculously small chance my daughter might not read, I present Exhibit A: a video of my daughter (with Down syndrome / Trisomy 21) reading at age 3 years, 2 months.

That same doctor? He also proceeded to read aloud the following list of  "might have" as found on the *National Institutes of Health Down syndrome page:

·                     Congenital heart disease (NOPE)
·                     Hearing problems (NOPE)
·                     Intestinal problems, such as blocked small bowel or esophagus (NOPE)
·                     Celiac disease (NOPE)
·                     Eye problems, such as cataracts (Nystagmus - Correctable!)
·                     Thyroid dysfunctions (NOPE)
·                     Skeletal problems (NOPE)
·                     Dementia—similar to Alzheimer’s (NOPE)

I found all of this information very frightening and very overwhelming! Who wouldn't? And where was the positive, balanced information? After talking to that doctor, I left with the feeling of hopelessness. It took my doing some research on my own and talking to parents of children and adults with Down syndrome to learn there was a whole different side to the story than what I heard from the doctor.

Balanced Information

When I had my first and second child, both of whom appeared completely normal at birth (and I do stress appeared), why didn't a doctor come in and read me the following list of "Mights?" 

·                     8.4 percent of children aged 3 to 17 have *ADHD.
·                     8 of every 1,000 children is born with a congenital heart defect.
·                     2 of every 100 girls between the ages of 15 and 17 will become pregnant and have a baby.
·                     On a *recent national survey, 16% of high school sophomores reported having 5+ alcoholic beverages in a row within the last 14 days.
·                     On a *recent national survey, 10% of 8th graders reported using illicit drugs in the last 30 days.
·                     10 percent of 18 - 24-year-olds do not have a high school diploma.
·                     Oh yeah - and 14% of Americans are functionally illiterate. 

Impact on Family

Many people initially worry about the effect that having a child with Down syndrome will have on themselves or their family. They worry about the "financial and emotional burden" of such a child.They worry about how "hard" it will be to raise a child with special needs. I was no different when I found out my youngest daughter's diagnosis.

 Now interestingly my middle child is in the autism spectrum, having an official diagnosis of Asperger's syndrome. Autism and Down syndrome are not related. *Read about what causes Down syndrome here. There is currently no prenatal test for autism, but I can tell you that my middle daughter with Asperger's has been far more of a challenge financially and emotionally for our family than our littlest who has Down syndrome. Don't believe me? Just read most of the other posts throughout my blog.

Here are some *recent statistics on Down syndrome that your doctor may or may not share with you:

• 99 percent of parent/guardians said they loved their child with Down syndrome
• 79 percent of parents felt their outlook on life was more positive because of their child
• 94 percent of siblings 12 and older expressed feelings of pride about their sibling 
• 88 percent of siblings 12 and older said they felt they were better people because of their sibling with Down syndrome

And of 284 people with Down syndrome who were interviewed (average age of 23):

• 99 percent said they were happy with their lives
• 97 percent liked who they are
• 96 percent liked how they look
• 86 percent indicated they could make friends easily
• And only 4 percent expressed sadness about their life. (What percentage of "typical" 23-year-olds would say that?)

I should also mention that while I don't have actual statistics and numbers on the following little tidbits,it is well known among the Down syndrome community that a high percentage of people with DS graduate high school, many have jobs and many live independently and even *get married as adults. In fact the film that took the honor of "Best Documentary Award" at the Tribeca Film Festival in 2011 was Monica & David - a documentary about a husband and wife... both of whom have Down syndrome.

One More Thing: 

The truth of the matter is that any kid can have problems, psychological, medical or otherwise. All children are a lot of work. All kids are expensive, and No child is "perfect." There are no guarantees that the child a person could have from pregnancy #2 will be a technically "better," easier, less expensive or a less challenging individual than a child with Down syndrome. Every child has challenges, every challenge is different.

Is every person who has a child with DS going to tell you that it's the best experience ever? Think about it - everybody knows somebody who complains incessantly about their "normal" child. They would complain if that kid goes to Harvard at age 11 and finds a cure to cancer at 13. Much of life is dictated by your own concept of it - how you see it, how you take on challenges and if you can adjust to things that are new and different. 
As for me? I wouldn't change my kid's "designer genes" for all the money in the world. My kid is smart, creative, sassy, loves the show Victorious and knows her way around an iPhone better than most adults. On top of that, she loves trying new things and she shares her amazing sense of humor with our whole family. How could I possibly do "better?"

Resource Links:

Amazing People With Down Syndrome:
Eagle Scout w/ DS 

Educational Programs/Toys for Children With Down Syndrome:
The Institute for the Achievement of Human Potential 



  1. I LOVE this post! Would you mind if I linked it on my blog?

  2. This is a beautiful, thoughtful, insightful, informative post! Thank you for sharing!

  3. Awesome post...I love your use of "designer genes". Next time, I need to describe my son's situation...I am going to use that in lieu of "genetic condition". You are right its all about perspective!


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