Because I was going to be the ripe old age of 35 when I had Miss A in March 2005, my OBGYN told us about this optional and fairly new genetics screening test available at either Baptist Hospital or Vanderbilt Medical Center. We were open to the idea of any new test, especially since it was noninvasive. I have to admit, however, that the test results caused me a lot of unnecessary stress. The results do not tell you whether or not your child has Down Syndrome, they just tell your statistical chances of having a child with Down Syndrome.
Well, my test results came back higher for my age. In fact, I tested as if I were a 37-year-old for statistical chances of Miss A having Down Syndrome. I was, admittedly, upset when I found this out and she is a perfectly healthy one-year-old. My test results came back as 1 in 154. The average for a 35-year-old woman to have a child with Down Syndrome is around 1 in 300, according to the USA Today article cited below. Once I calmed down and realized Miss A would more than likely be very healthy (and she is), I was fine, but with pregnancy hormones raging I had a difficult time realizing my test results were not what I had anticipated. If you aren’t mentally prepared for your test results to come back something other than glowing, you may not want to have the test. We also opted not to have an amniocentesis, but because my results from the nuchal translucency test came back a little higher than average for my age, we were given that option. It’s strictly a personal decision as to whether or not you are an “older mama” of 35 and up and decide to have additional genetics testing. I thought it would be better to be more informed, but the nuchal translucency test does not definitively tell you anything and if you are already opposed to having an amniocentesis, than I would probably opt not to do it. Just my two cents. I found very little information on this test on the Internet last year, so perhaps this information will help someone.
A helpful place to vent and read about other women who are pregnant and age 35 and up is on ivillage.com’s pregnancy message boards. I would advise against trying to self-diagnose any kind of problem on the Internet, though. There is a lot of information out there that is misleading and inaccurate.
The pros of the test, however, include that it is noninvasive. It poses absolutely no risk to the baby and consists of a blood test and a an ultrasound to measure the clear (“translucent”) space in the tissue at the back of your developing baby’s neck. The test must be performed between the 11th and 14th weeks of pregnancy. Dr. John Bruner, a pioneer in fetal surgery at Vanderbilt Medical Center and world famous for the “hand of hope” photo in which he holds an unborn baby’s hand during surgery, performed the ultrasound on Miss Aa. I did not realize that’s who he was until after it was scheduled, but talk about confidence in your doctor! Cons include the mental stress of wondering about the “unknown” and our insurance, Blue Cross Blue Shield, did not pay for the testing as it was considered optional.
Updated January 2007: I appreciate the comments that have been e-mailed to me about this page. You can write me at blondemomblog {at} yahoo(.)com with your thoughts or comments. I’m glad we decided to not do further testing with Miss A. My husband and I knew we would not terminate the pregnancy, even if she had Down Syndrome. It’s a strictly personal decision during a time that can be filled with a lot of unknowns. Although I tend to be a firm believer in “knowledge is power,” I sometimes wonder if all the “knowing” can be detrimental. On the other hand, some people want to know so that they can be prepared for any medical issues when their child is born. This whole parenting thing is a leap of faith, isn’t it?
Helpful links:
Ask An OB.com is one of the best online resources for accurate and individualized medical information. Founded by Carri R. Warshak, MD, a mom to four children, her areas of expertise include high risk obstetrics, medical genetics, ultrasound, advanced maternal age, fetal anomalies, concurrent maternal medical conditions, hypertension in pregnancy, diabetes in pregnancy, and placental disease. Ask An OB.com is a personalized, interactive opportunity for you to spend time talking about your concerns with a highly-trained obstetrician.
July 2008 –
Pregnancy Weekly article
YouTube video of Nuchal Screen scan
Pregnancy & Childbirth About.Com article
Nuchal Fold Translucency article from Suite101.com
February 2008 –
What to Expect When You’re Expecting Website
Madison Mom blogger’s Nuchal Screen Experience
Older links:
Baby Center
Johns Hopkins
University of California, San Francisco, Children’s Hospital
OBGYN.net
Washington Post article, November 10, 2005
[...] No amnio. No quad screen. No nothin’. At first, I was contemplating the nuchal screen. [Let Blonde Mom explain the nuchal screen to you. Excellent info.] My doctor asked me, Well, what do you plan to do with the [...]
I had an abnormal nuchal screen at the age of 37. I was pressured to have an amnio but I didn’t, since it is not a risk free procedure. My son was born with Down Syndrome in 2001. It was tough at first coming to terms with it but I’ve learned to accept and love him, and to enjoy my new life in Holland.
An amniotic fluid test is mightily dangerous. My cousin had one recently and she lost her baby due to it. The child was cremated and her ashes were made into a beautiful diamond. I know an amnio has certain merits, but well… I’d certainly be worried if wy wife were to get one.
This risk-free procedure sounds extremely interesting!
This is helpful to women like you, I think you should also post where and how the procedure went on, you will be able to help by providing enough information to the readers.
Jamie, I appreciate your honesty here and your passion and compassion to share your experience with others. Thinking back it’s a bit ironic that we chose not to test with amniocentesis at my age of 34—that was 1993. We said it would not change our opinion and we didn’t want to take what we thought were risks of the tests. And then I had a child who was diagnosed at age 3 with autism. I teared up at this post. I teared up because I believe firmly in a woman’s right to choose. But, also, I so love and respect and honor and cherish this life that disAbility via my daughter has brought to me. I fight tears because I know that young people with Down syndrome will enter a program at Vanderbilt UNIVERSITY this fall and all around the country there are people with this chromosonal anomaly GOING TO COLLEGE. And yet Fear motivates and ignorant doctors advise people to terminate. In the Down syndrome community they have a saying: There is a cure of Down syndrome…It’s called abortion. Ninety percent of those tested positively choose to abort. Ninety percent. In England now, education is speculated to be a possible reason the numbers are finally going down on the numbers of people who choose not to abort a child THOUGHT to have Down syndrome. And then I think about those who advocate for such (very flawed) testing for people with my daughter’s disorder that has not yet arrived. And I think about what I have dedicated my life to: upholding and helping to communicate the beauty and dignity and the rights of those who are differently abled. The are one of us. They are amongst us. They are us. And they deserve respect, too. I’m sorry. I hope my pouring out here is not offensive to you. There is no shred of anything negative toward you or your post in my words here. I just feel very passionately about this topic. It so saddens me. Namaste.
This is a great article. Thanks for letting people know. I was thirty six, when they took the test. It was for that and other disorders that can affect a child developing inside when you’re older as I was, come from my racial background – Eastern European. I don’t think I would’ve ever consdidered abortion for Down’s but there are plenty of other things I might – I don’t think I could handle carrying a child that was doa. The downer for me is that the person explaining all this at the office seemed like she was trying to tell me I should get an abortion – before my tests came out just fine – when I was there to be tested. Because of my age and my background as an Anastazi jew!
This info is very helpful for pregnant women!
The test seems to be trustworthy and easy!
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[...] amnio after the nuchal results. Jaime, who writes the Blond Mom Blog, wrote about why she decided not to have an amnio after receiving disappointing nuchal results. For some, the nuchal is controversial because it [...]