Sequential Screening Results and Accuracy.

I think the amnio is worth doing even if you would not terminate. With an experienced provider, the risk is quite small, and if it turns out the child does have Down's, it gives you 4-5 months to figure out how you are going to deal with a baby with Downs, and to readjust to the reality. Most likely, everything is fine, but I think doing the test is worthwhile for your piece of mind and future planning. Good luck to you and the baby.

I went through this same thing with my second son. My numbers came back 1 in 42. I almost fell off my chair when the nurse called and told me. I had to hang up with her, collect myself together, and then call her back to get the next step. I went for the Level II ultrasound and the Dr. found a two-vessel umbilical cord (a "soft sign" for Down Syndrome). Now I was really freaked out but decided not to go with the amnio. I wasn't going to terminate and I didn't need to prepare myself with information since I work in Early Intervention with special needs children. I DID ask my OB to order an Echocardiogram of the baby's heart. Heart defects are common with babies with DS and if that was going to be the case I wanted to know she the delivery room could be prepared. Echo came back normal, by the way.
All that said, I delivered a totally healthy baby boy who will be going to Kindergarten next week!!
This test is just a "screening", not a certainty!!

I have been through this process three times now. My husband's sister has Downs so the relation is very close and we were concerned about the stress and strain that another family member with this condition would bring to the family. Luckily we have not had to make any "difficult" decisions.

The data results are incomplete without the genetic input. If the results are merely coming from your OB/GYN then you need to get onboard with a genetic counselor asap.

The other thing you need to know is that these are percentages or rather chances of the disease occurring and you need to weigh this risk against the risks of a CVS or amnio. In particularly, the frequency of an auto-abortion from the procedures.

Lastly, you need to know that these are "screenings", not actual tests, and that without actual DNA, you won't know "for sure". As you progress through the screenings, your risk chance will be adjusted up or down accordingly. Ultimately the screenings can be wrong.

Now, this decision needs to be weighed against your personnal philosophy and since you stated you would not terminate, I am not sure continuing down this path maskes sense for you. Since you already have this preliminary data and you are concerned, your energies are better spent preparing for the possibility of a special needs child. Build your support network, ensure the right pediatrian will be at the delivery, start researching local Downs Syndrome organizations and what resources are available in your area, etc. Get involved now with a group of local Moms that have special needs children, especially Downs and learn from them how they handled baby's needs - everything from nursing to changings to bottle feeding - whatever you might have concerns about. If you have this knowledge and are prepared, you can focus on the pregnancy and bring the healthiest baby you can have into this world.... and after all that, the baby may be "normal".

I wish you the best of luck on your decision and pregnancy.
~C.

When I was pregnant with our 2nd and 3rd (twins) they did a quad screen which came back 1/90 risk for Downs. Wow, was this stressful, considering they're identical twins and if one has Downs the other will too. So, we decided to go ahead with the amnio. I had no idea what we would do with the results but I knew we had to know this information even if we didn't want to terminate. Every place that does amnios has their own miscarriage statistics. I believe the risk of us having a miscarriage with the amnio was something like 1/3000 (we went to Maternal Fetal Medicine at Harrisburg Hospital). This is much lower than the average you find on the internet which I believe was 1/300. Our results came back normal. I can't imagine if we would have had to wonder for the entire pregnancy whether or not they had Downs. PM me if you have any questions.

This happens to a lot of women. My best suggestion is the next time you get pregnant to not have the screening done at all. If you aren't going to abort one way or the other, what is the point in knowing? (Plus they cannot be 100% sure until the baby comes out anyways.) Sorry I don't have anything better right now, but those tests are so unpredictable, I wouldn't stress too much about it!

The way my doctor put in perpective for me was this way: your odds are 1 in 114. That means that of every 114 women with your numbers, 113 (99.2%) of them will have perfectly healthy babies. 1 will have a Downs baby.

As for the amnio, this is very personal. You know yourself best - are you the kind of person that needs to know everything there is to know ahead of time about Downs so that you are mentally prepared for the baby? Or can you take it as it comes and learn on the fly, while adjusting to the new baby? What about your boyfriend since this affects him too (and his ability to cope will affect you and the baby)? And, most importantly, would you be able to live with yourself if you had the amnio and miscarried, only to find out the baby was perfectly healthy all along?

If you are the kind of person who needs information to prepare, I agree with the other mom below that if you should ask for the specific miscarriage rates at your center and even for specific doctors to make sure you minimize the risk (they may or may not give you that info, but I'd ask anyway).

My thoughts are with you.

I'm a bit late on jumping in this conversation and you have most likely already made your decision but here goes anyway. My third child was born with Down Syndrome and a heart abnormality. I declined all the testing since I knew I wouldn't abort. I was actually glad that I found out about her condition while I was holding her in my arms. I had noticed some of her facial features before anyone said anything to me and I asked the nurses about it. They confirmed that they suspected DS and pointed out other characteristics as well. I was glad that I didn't know in advance. I think I would have been panick stricken and it was so much easier for me to cope with the news after I had just fallen in love this beautiful little girl. I have to say my sweet little 3 year old Lacey is an absolute joy to our family and all who come to know her. People just fall in love with her because she is so darn adorable and sweet. Also Down Syndrome hasn't been difficult to deal with at all. The heart issue was a nightmare though and she almost died - that is all behind us now.
Now I am pregnant with my fourth child and I just had the first blood test and ultrasound. I almost didn't do it but my midwife kind of twisted my arm. It would be nice to know for sure that this baby is fine but I won't do the amnio and no matter what the results of the screen I just wont be able to know for sure. I kind of regret even starting it. One thing I will do is go to the cardiologist and have him do an echo to check for heart problems. Honestly DS doesn't scare me but another heart issue is very scary to me.
I hope this help anyone out there that is having a baby with Downs - Of course we don't want our kids to suffer with any problems but after Lacey was born my husband said "It's not just going to be ok", it's going to be good" and he was so right. Life is fabulous and God doesn't make mistakes. :)

I wish doctors would do a better job of explaining the screening.
The screening is NOT an accurate tool to diagnose Down syndrome or other chromosomal abnormalities. It is a tool to identify those pregnancies that carry a higher than usual risk for chromosomal abnormalities to pinpoint those cases who would most benefit from a more invasive test like a CVS or Amniocentesis.
The fact that your risk is higher than normal (1:114 instead of 1:1000) makes you a candidate for a more invasive test, but it still is ONLY indicated if the result would actually change how you feel about this pregnancy.
If you know that you will under no circumstance have an abortion, then you don't need to know for sure. You can ask for detailed ultrasounds later on in your pregnancy to exclude (or prepare for) some of the serious birth defects that sometimes come with chromosomal abnormalties, such as heart defects.
Good luck!

I had this done with my two middle kids. Both times I got a false positive. The Alpha fetal protein test is highly inaccurate. I refused it when I had my fourth and everything was fine. They just want to give you some else to worry about. I would never ever have that test again ever.

Hi,
I got pregnant with my third child at 40. I had the same thing happen a bad first and second test. I ended up with a 1 in 7 chances of having a downs baby. I wasn't going to have the amnio done because I knew someone that had problems with one. But then I thought about it an decided that if I was going to have a downs baby I want to be well prepared with the right doctors, right hospital etc.... so I changed my mind and had it done to see for sure. It turned out that the blood test were wrong and I now have a healty 4 year old but it did take a lot of stress off me to know for sure. I think it might also help you to know for sure either hopefully find out it was wrong or be able to research and be properly prepared for dealing with your baby. Good luck and God bless you and your family.

We just had a whole situtation with our ultrasound comming back w a bright spot on the liver (not very common) and we were told by specialist it could be many things (Cysytic Fibrosis, infection such as CMV, some hemo thing I can teen pernounce, and another thing) We are getting the gentic blood testing done but have opted out of amnio because no matter what we are keeping the baby and there is nothing they can do treatment wise for aby no matter what the results. Its totally a personal descision but just remeber that its just a chance. I have heard of many people who have been told that the chances are high and then have perfectlly normal babies. The ultrasound should show you if there are any more abnormalities then you will have better idea if it is more likely than not. Just as a warning I was frealing out after I saw the specialist and then talked to my OB. She said that the likely hood of my baby having issues is very small and that the specailist has to go over everything for legality reasons. It will be overwhelming but please take everything with a grain and talk to your OB after wards, they can usually be a bit more calming then the specialist. If oyu have any specific ?s for me feel free to mess me, hope this helps even a little ((HUGS))

Aww.....I'm so sorry that you're going through this. I'm sure that it's a really sucky situation emotionally on top of all the crazy hormonal things your body is already going through. I know it's hard right now, but try and relax. I can't speak to the sequential screening, but I had abnormal results on my quad test and was watched throughout my pregnancy (monthly level 2 ultrasounds, visits with the perinatoligist (sp?), frequent non-stress tests) I was told everything from "Your baby has a high chance of having Spina Bifida." to "Your uturus is misshapen". None of it......NONE of it......caused any problems (or in those two cases was even true!). I used to stress out before every visit about what new problem they would find this time. It all turned out perfectly. Great pregnancy. Great delivery. Great baby. My only complaint about my pregnancy was that I was watched too closely....LOL!