ALL Pregnancies Should Be Screened for Down’s Syndrome
Whoa. It’s past midnight over here in London but I’m wide awake now after seeing this headline. The American College of Obstetricians and Gynecologists (ACOG) has recommended that ALL pregnancies should be screened for Down’s syndrome (trisomy 21) before 20 weeks. And here I was still thinking that I hadn’t hit the advanced maternal age of 35 yet, the starting age at which screening was previously recommended.
The ACOG suggests that women consider the following issues when deciding whether to undergo screening for Down’s:
- Do you have a family or personal history of birth defects?
- Do you have any reason to suspect a higher risk of chromosome abnormality in your offspring, i.e., if you have one yourself?
- Are you willing to risk the possibility of losing your pregnancy from some of the invasive procedures needed to ascertain whether your child is at risk of Down’s syndrome?
Currently available screening methods include nuchal translucency assessment via ultrasound; maternal serum screening (blood test) aka tripe screen for alpha-fetoprotein (AFP), unconjugated estriol, and human chorionic gonadotropin; amniocentesis; and chorionic villus sampling.
Tags: down syndrome, downs syndrome, trisomy 21, genetics, genes, dna, prenatal testing, triple screen, afp, amniocentesis, chronic villus sampling, cvs, pregnancy, pregnant, mothers, fetus, diseases, illness, health
Hi Hsein
So they want us to be screened for Downs’s…and then what? You are at say 19 weeks…there is nothing you can do about it and even prior to that when you can “change your mind” per say, would you then abort the baby?
Being 22 weeks with my 4th baby, I always opt not to have the test done, because really, it makes no difference. I had a friend get the test done, it said her baby had down’s, yet he was born as healthy as could be down’s-free. She spent her entire 9 months freaked out and scared…for no reason.
Hi, Shannon! I totally know what you mean. I haven’t been able to decide what I would do if I were to get pregnant again. I’ve heard many false positive stories as well.
Let me dig around and see if there are people out there who’ve documented their experiences with prenatal testing and having Down’s children. I think that might help me and others have a feel for what to expect if that were to happen to us.
Hope you’re feeling great during this pregnancy. You certainly sound like you’re doing very well!
I’ve always opted not to do the tests because the results wouldn’t change my options.
Actually, one of my uncles has Down’s Syndrome, but a rare form where another chromosome was duplicated and I am not sure that would show up on conventional tests. At the same time, knowing people with Down’s means that I don’t see the problem in the same way as people with no experience. Down’s itself is not a tragedy.
That said, while my uncle has sisters who loves him, his life has been much more difficult since my grandparents died and I worry both about him and the aunt & uncle who are his primary caregivers all the time.
I think I got tested for way too much when I was pregnant. It was like, your odds of having a baby with this problem are 1 in 30,000, but we’re going to test anyway. Good news! Your odds of having a baby with that particular problem are now 1 in 300,000. It really didn’t make any difference to me and made for a lot more time in the doctor’s office!
Kate: I think that would be my biggest worry. Of course, I would love my child, but if I’m not around, could someone else take care of him/her as well? That’s the same concern I have now even though S’s biggest problem is his tendency to be a tyrant.
Stormy: Hello! Thanks for the comment. I love the perspective you have. So much more grounded in reality.
My daughter has Down syndrome and she is a wonderful child. She is a person and she deserves to have a life. When she looks in the mirror, she likes who she sees.
dawn: Your last sentence made me tear up a little. You must be a wonderful mother to have filled her up with so much love. Thanks for the comment.
I went to the press release and was struck by the difference of what the headline says ” New Recommendations for Down Syndrome Call for Screening of All Pregnant Women” and the first line, which is ” All pregnant women, regardless of their age, should be offered screening for Down syndrome”. Mandating testing vs. offering testing to me suggests that women should have this option (covered by insurance), but that it is not in fact required. To me, this is an example of putting out a press release to grab attention, and can be misleading to whoever sees it and doesn’t have the time to really digest what they are saying.
Kelley: In the process of reading up on this new recommendation, I was pretty shocked at all the exaggerated headlines. I don’t think any prenatal test is ever required but it does matter for healthcare purposes. Even aside from insurance concerns, the pressure it puts on pregnant women to undergo medical procedures because of official recommendations is not inconsiderable. Thanks for your comment!
I have always been afraid that I might be a carrier of Down Syndrome because of the fact that on my dads side it seems that there are quite a few of them born from cousins and aunts. And I have heard about genetic testing, is this something I should consider? On the article I believe that it should be the families choice to have the screening done but honestly, you made it and should love it no matter what! So what would it matter.
Hi everybody…. I’m sure this has probably been on someone’s mind like it has been on mine. The question is … did anyone have a positive reading on their blood test for Down’s Syndrome then proceeded to have an amniocentesis to look further. Did the amnio show a different result than the blood test and was it for the best.. and how many actually went through the whole 9 months thinking about the Downs Syndrome and then the baby was born normal???? If people would be so kind to let me know it would be much appreciated…….
Hi Debby
I have spoken to a midwife colleague of mine. She has let me know that the Down’s Syndrome blood test and other tests such as nucal scan are all ‘risk assessment’ tests – that is the results let your physician know whether you are at increased risk of having a Down’s Syndrome baby. If your blood tests showed you are at increased risk then an amniocentesis test is offered. This is a ‘diagnostic test’ which checks out whether there is anything faulty in your baby’s chromosomes. If there are faults on a chromosome (chromosome 22 in Down’s Syndrome) then a doctor can tell you that you are very likely to have a Down’s Syndrome baby and will offer you counselling on all the options available. If there is no chromosome fault then you are not having a Down’s Syndrome baby.
I would imagine that most women who have had an ‘at risk’ blood test will be really anxious about having a Down’s Syndrome baby even though they have been cleared through the amnio test. All your worries are perfectly normal for a pregnant Mom, it shows you really care about your unborn baby. If you continue to feel worried, pop down to your physician and explain things to them, they or one of their staff will, I am sure, be happy to listen to you and reassure you.
Good luck Debby!
Penny
thanks penny
thank you getting back to me ….. ;m so glad there someone out there who i can talk to regarding this… your knowledge was very helpful… now one more qiestion if you don;t mind …. my trisomy is showing only 18 which my mid wife saud was chroisome 18 do you now what degree of ds if any his may involve your advice so far has been great…. and dose the 22 mean 22 cromosome or only the 22 one they check for abnormalties… hope i donlt have ya confussed… hope to her back again from ya thanks for your time once again…… i now its pretty sad canlt even find the time to discuss this with my boy friend all i get is chill out wroge thing to sat to me at a time like this right,,,, thanks once again……….Debby
My daughter is 25 and pregnant with her first child. She had the blood tests done and they sd she is at high risk for a downs baby. They also sd it could be low birth weight – twins – or wrong due date. She is really upset. How acurate are theses blood tests? Can it be off? They want her to have a level 2 ultra sound asap and maybe an amnio. Should she be very concerned with possibility of downs? Her husband is 30 yrs old. Please give me some advise.
Dear Sandi
I’m sorry to hear about your daughter’s blood result. I can provide a little advice but your daughter and her husband must speak to her physican in order to come to the right decision.
Your daughter has had the blood test done which is a ‘risk assessment’ test not a ‘diagnostic’ test. The results of her blood test suggest she is at higher than average risk (compared with other Moms) of carrying a Down’s Syndrome baby.
Unless your daughter wishes to carry her baby to term regardless of whether there is a problem, the only reliable diagnostic test for DS is an amniocentesis test supported by an indepth ultrasound.
The amniocentesis test is not without its own risks which your daughter’s physician will discuss with her. It is a procedure whereby a needle is inserted into the mother’s tummy and some fluid that is protecting the baby is taken out in a syringe. The fluid contains the unborn baby’s chromosomes which can then be looked at to see if there are any faults. The physician can make an accurate diagnosis and depending on the results will offer various options.
This is a very difficult time for all the family and it is vital that you rally around your daughter and provide her with lots of support and love.
Penny
Penny – Thank you for your help! My daughter had an ultra sound done today – not a level 2 but shows baby girl – normal and healthy and due dec 12th. Dr called and apologized to my daughter about the way the test results were relayed to her and her husband – over the phone from the nurse and also sd he is not concerned that there would be a problem. (terminating the pregnancy was never an option. ) We all realize that nothing is 100%. We are all praying for the best and will handle whatever comes. We know one thing for sure — they are going to be new parents and we are going to be grandparents to a beautiful baby!!!! Thanks again
Dear Sandi
This is wonderful news and even better that your grand-daughter will be born in time to celebrate Christmas as a complete family!
My thoughts and prayers are with you all and please wish your daughter the very healthiest of pregancies!
Penny
Hi, My dad’s first cousin had down syndrome. I am planning a baby this year. I am 32 yrs and this is my first baby. I am worried about my baby being born with Down Syndrome. Also I am obese. I need some information on this. Can anyone help?
i just found out that my son and his wife have been informed by her doctor that she tested positive on this test—they are 19 and 21 years old. I was “crazy” when i heard they told her this over the phone. They have opted not to have the amnio and are scheduled for ultrasound 9-27—all prayers are appreciated.