After reading Maria’s story about giving birth in France, I began reflecting about the time when my OB/GYN told me that he was prescribing me tests to see if my unborn baby has Downs Syndrome.
Testing the fetus for Downs Syndrome is a standard procedure in France, so it was not because he personally thought my daughter was at risk. The only problem was, I did not want to know. Unlike Maria, I did not know that I had the option for refusing this test. My doctor made it sound like it was obligatoire.
I knew that these tests were not always accurate, so my baby could receive a false diagnosis. I also knew that I would love and want her no matter what, and knowing she had Down Syndrome would not have changed a thing for me. At the time, my husband agreed with me. Now, he says that babies are a lot of work and having a child with Downs Syndrome would be even more work. My daughter was next to me, making goofy faces and saying “da-dadada-dada-da-dada” to him while having this conversation. So I asked him, “if you knew she had Down Syndrome, you would not love her?” He smiled and scooped Juliana in his arms and gave her a hundred kisses. He told me that he would love her, but he would at least like to know in advance to prepare mentally.
When the doctor gave us the prescription for the tests, the one thing that comforted me was thinking that this test was to mentally prepare for the baby if she has Downs Syndrome, not for termination of pregnancy. I already loved her so much and I could not imagine debating on whether or not to keep her. In my mind, she was an angel. Anyways, who does not love a good challenge? It would be no fun if everything was easy, as it is our challenges that help define us, that make us who we are.
As it turned out, I was not challenged with a baby with Downs Syndrome, instead, I have a baby with tremendous curiosity and tendency to cause havoc at any given moment (last night she grabbed a bottle of balsamic vinegar off a low shelf while I was cooking, shattering glass all over the floor – I stepped on a piece and bled all over when I took her to safety. Maybe she is more devil than angel?!).
How is the fetus tested for Downs Syndrome?
The first step is to have your blood withdrawn and screened. You will receive a prescription from your doctor for this specific blood test. If your doctor or midwife does not administer the ultrasound himself/herself, then you will receive forms to give to the radiologist at your 12th week ultrasound appointment. This is considered to be the most important ultrasound because you will be given your official due date, measurements will be made, and you will know if it is likely that your baby will have Downs Syndrome.
At this appointment, the person conducting your ultrasound will study the nuchal translucency and nasal bone. The nuchal translucency is the space between the skin and soft tissues at the back of the fetus’ neck. The effectiveness of only this determining if the child will have Downs syndrome is 70 percent, with a false-positive rate of 5 percent. So, doctors couple it with observing the nasal bone. The nasal bone is underdeveloped in about 62 percent of fetus’ with Downs syndrome, and only 1 percent of those who do not have Downs Syndrome. Combining these two tests with the blood screening reduces the chance of having a false-positive but does not eliminate it.
Challenging its effectiveness of Downs Syndrome testing
A study in France from 1998 and 2001 at 12 maternity units found that out of 5,694 women, 26 had babies with Downs Syndrome. Using the method described above, they detected Downs Syndrome 73 percent of the time, with 4.7 percent of women receiving false positives. I am hoping that with improved technology and training, the number of false positives have declined since then. I can’t find any newer studies, but will keep my eyes open in the future to keep this post better up-to-date.
My personal thoughts
I believe this test is great for women who need to be mentally prepared for the challenges of having a child with this disease. However, what worries me is that I am sure there are women who terminate their pregnancies after receiving a false positive. Avoiding the controversial topic of pro-choice or pro-life, it is sad to know that babies are not getting their opportunity to live because a test showed they have something they do not. I can understand why some women choose to do this, as having a child who is not considered “normal,” is difficult and she may not have the time and resources to devote to the special needs.
My grandmother fostered children with Downs Syndrome who were abandoned by their parents, and my mom continued taking care of those kids for a while after my grandmother died of cancer (my mom had too many kids of her own to do this long-term). Since my grandmother and mother loved and took care of those children who were not even their own, I did not have a doubt in my mind that I could do it if my daughter turned out positive. We are living in a different time now, and there are varying degrees of Downs Syndrome, so some children do end up becoming independent adults.
I would be very interested in getting new numbers about false positives and the percentage of women who terminate their pregnancies after receiving a positive. If you know where I can find those, please let me know.
Resources
Down syndrome screening by ultrasound
I think you may have left out a few things, but perhaps that is because I am only familiar with pregnancy and child-birth in the US.
At least in the US, until recently, prenatal diagnostic testing was only ever offered to women age 35 and older (high risk category, of which I was one). The American College of Obstetrics and Gynecologists now recommends that all women be offered prenatal testing. It is up to the indivisual to decide for herself if she wants to have diagnostic or screening tests during her pregnancy or if she want to decline all testing during her pregnancy. I personally never felt any pressure to have the tests done, nor were they implied to be mandatory (even though I was 36 when I got pregnant).
As for screening…
The earliest detection can be done in first trimester screening (between 11-13 weeks) and can combine the ultrasound and a blood test, which together have very good rates of detection. From MayoClinc.com (http://www.mayoclinic.com/health/down-syndrome/ds00182/dsection=tests-and-diagnosis)
“Ultrasound. The doctor uses ultrasound to measure a specific region on the back of a baby’s neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this tissue.
Blood tests. Results of the ultrasound are paired with blood tests that measure levels of pregnancy-associated plasma protein-A (PAPP-A) and a hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.”
You also have the option to do these two tests in the first and second trimester, leading to a lower level of false positives:
“The results of the two parts are combined to estimate the risk that your baby has Down syndrome. This test can achieve the same level of detection as the first trimester combined test but with a lower false-positive rate, meaning that fewer women are incorrectly identified as carrying a baby with Down syndrome.
First trimester. Part one includes an ultrasound to measure nuchal translucency and a blood test to measure PAPP-A.
Second trimester. Done at 15 to 20 weeks of pregnancy, the quad screen measures your blood level of four pregnancy-associated substances, alpha fetoprotein, estriol, HCG and inhibin A.”
What I found fascinating in the first article you posted is that currently the combined tests of serum marker + ultrasound in the first trimester are NOT ALLOWED in France!
“first-trimester maternal serum screening is not currently allowed. Since the NT scan and the serum test are carried
out sequentially and interpreted independently, the proportion of women undergoing amniocentesis is very high, leading to unnecessary fetal losses.”
I for one am incredibly grateful for the opportunity to be screened and understand my risks fo carrying a baby with Down Syndrome (as well as other genetic abnormalities). Our blood tests revealed no issues; however, our first and second ultrasound revealed that our daughter was not displaying a prominent nasal structutre (underdeveloped nasal bone), which greatly increased our chances that she had trisonomy 21 or Down Syndrome. With the second ultrasound our prenatal specialist asked if we wished to have an amniocentesis. We immediately said yes and had it done right there. @ days later the preliminary results indicated that there was no sign of trouble and 7 days later it was confirmed that there was 0 chance that our daughter had Down Syndrome as well as a myriad of other diseases and abnormalities that they can test using the genetic markers in the amniotic fluid (like cystic fibrosis and spina bifida).
I would strongly urge women to understand the risks of any tests as well as think long and hard about what you will do with the results once you have them. To me, having the amniocentesis was something I had considered and decided that I was open to the risks of even before I became pregnant.
I think you are being extremely judgmental of women who decide to terminate their pregnancies due to a DS diagnosis. Your post sounds self-righteous and very much linked to the debate over reproductive rights. Good for you, perfect saintly lady with perfect child, for not even considering it. But you don’t need to judge other people’s choices simply because you were not confronted with the decision nor the strain to raise a child who might never be able to be fully independent as an adult. Besides that, the article is completely uneventful: lady gets tested, everything is fine, she continues on with perfect child, husband and life. Dull! and judgmental!
First of all to Sue Lemon, the author does not crticize those who terminate a pregnacy due to DS at all.
Myself being in France, when the test was given for me to do – i immediately did not like the idea.
age 30, no family history, & the baby’s measurements looked fine for not having DS.
My family in the US was a bit like ‘what?’ that this test was offered as it is not standard in the US in such a situation.
The doc told me that the blood test would give in 1 in —— chanceof having a baby with DS.
After seeing that number, they would need to sample the amniotic fluid – a risky procedure that i knew already can cause a miscarriage that i was unwilling to preform.
I DID NOT WANT TO SEE THE NUMBER.
i was worried enough of all the other possible things that could happen & i did not want some number lurking over me about a child with DS as i dealt with the other anxieties.
At my 2nd trimester rendez-vous, all the (french) doctors were clearly annoyed that i did not choose to do the test (they told me before hand that i did not have to; it was optional).
….and that is how it was for me