Quad Screening Positive for down Syndrome

I also had a high risk for Down's (1/49) with my first child. I was scared to death and worried until we got the results of the amnio back (even though they said probably not with the level II sono). My son is perfectly normal and healthy!! Those screenings are just that, screenings, and have a high incidence of "false positives". Easier said than done, but please try not to worry!!

Like one of the other ladies mentioned, I did it differently with my 2nd child. I went ahead and did the screening, but asked that they not give me the results until after my level II sono and amnio. It was much easier to get through it all that way!! (his test ended up normal)

I don't want to concern you, but there is something that my doctor told me about an abnormal test that you should be aware of. He said that showing a high risk of Down's can be an indicator of placental problems in the 3rd trimester. Because of this, he started giving me weekly sono's as soon as my 3rd trimested started to monitor me. I'm sOOO happy that he did, I ended up having low amniotic fluid (a placental problem), but since we caught it early it was easily kept under control. Just something you should keep in mind and also ask your doctor about.

Good luck to you!!

I was 20 when I had my son who has Down syndrome. He's six now and is the greatest gift, just as my other two kids are. So, if it does turn out to be true positive for DS know that though the situation isn't what you imagined, it's still a wonderful blessing.

Hi V.,

My quad screen with my 1st child came back for Spina Bifida. I was completely terrified!! My dr sent me to Bannie Tabor at Harris Methodist. He was a wonderful dr. I was scheduled for the more advanced sonogram and possible amnio. He was able to tell from the sonogram that my son was perfectly healthy, so there was no need for the amnio. We had recevied a false positive!! Apparently, there are several different factors that can cause the quad screen to give a false positive. I was so thankful that it was just a false positive. Today my son is a very healthy (and very active) 3 1/2 year old. Good luck at your appt. I will be praying that it is only a false positive for you as well.

Hi V.-

Just wanted to let you know I also had a false positive and I now have a beautiful healthy 22 month old daughter. That test has an alarming false poitive rate.

Sending positive thoughts your way-
N.

My wife is in week 20 of our first pregnancy. I am 36, she is 34. We are normal, healthy individuals. About 3 weeks ago, we received a call that we were “positive” for a DS baby after the quad test. After our own research, no thanks to the clinicians, we discovered that we showed an increased risk, NOT necessarily a DS baby. The good news was, we could live with that.
Our results showed a 1:5 chance for DS. Rather than tell us, “you have an 80% chance of a healthy baby”, we were told that we had tested “positive for DS”. How BS is that?! We went in for an Ultrasound. BTW, the DR hasn’t even made contact since the quad test. The RN was the one who called with the results. How tacky is that?! After doing a lot of research, we realized that these test produce too many false positives. We would very likely not have this done in the future.
While waiting 4-5 agonizing days to get the US, we decided that we things could be worse and hoped only for an otherwise healthy baby. The day of the US, the Clinicians were looking for the common markers for DS. Brain, Neural fold, Heart, Intestines, Simian Crease, Humorous length. . .all good. Femur was a few days short in terms of development. I, of course, reminded the MD and my wife that I have relatively short legs and a long torso. . .laughs. Oh yeah, at this point, we find out it’s a boy. We hadn’t really given much thought to preference, just wanted a healthy baby. Also, the baby showed signs of “sandal toes”. This is where the big toe is spread apart from the others. I reminded my wife that I also have this. Had to show her when we got home .
Soft markers, but given out 1:5 risk, cause for concern. I, however, was happy to see no major or life-threatening conditions. I read somewhere that a husband asked if a DS child could still love, fish, and play ball. Hell yes they can. This was just fine with me! What a brilliant question!
We decided on an amnio. . .simply to be prepared and alleviate the stress of not knowing. I have to admit, it worried me to watch the screen as the needle went in. My poor wife jumped a bit, but claimed it didn’t hurt, “just felt weird”. Bless her for being such a trooper! I likely would have screamed just prior to vomiting or passing out! Luckily, the little guy stayed away from the needle (stranger danger). 24 hrs went by with little if any reaction. A little sore is how my wife describes it. Although not necessary, I made her lie down for 24 hrs and wouldn’t let her lift a finger. I know, I am way to hyper-sensitive.
We opted for the FISH test. . .we wanted answers. 3 days later, the genetic counselor called with good news! The FISH test showed now abnormalities. 1st hurdle: no birth defects on the ultrasound. 2nd hurdle, FISH test was good. Today is day 14 for the Amnio results. We had to put our 16 year old dog too sleep (Nanook). He was a true companion and will be missed. One of the worst days of our lives ended with a beautiful ray of hope. The Amnio came back with no apparent abnormalities! I think my wonderful dog knew today was a day to remember. It was the worst and the best day all in one!
For now, we are so relieved to be able to enjoy the rest of the pregnancy. I was so worried about my lovely wife and her well being during the last 3 weeks. No one needs that kind of stress. I am sure our baby will be born with a receding hairline .
I am writing this for all of you who find yourself in the same situation. Keep your head up and look for the positives. We were 1:5. It doesn’t get much worse in terms of odds. Having a false positive is no picnic, but in hindsight, we count each and every blessing as they come. As I type this, by beautiful wife is sleeping with our 2 cats and dog around her. They know she is sad and happy. I hope that someone will read this and find comfort in the fact that things are not always a bad as they seem.
-an over-reactive, scare-to-death, extremely happy, father-to-be!

Hi V.,

First of all, don't panic!!! The quad screen comes back with so many false positives AND false negatives (why they continue to have this test, I'll never understand!)...I've had 2 friends with false positives who freaked out!! Everything turned up normal with their babies.

Hugs,
H.

I second the advice to not panic. The quad screen results can be flukey and are not definitive by any means. If you are concerned, go for the level two sono and then decide if you want the amnio. You are young so odds are most likely in your favor.

Because of my age, we skipped the quad screen and just went for the level 2 with the option for an amnio. I'm just one of those people who likes to be prepared and didn't want any surprises. Like mentioned previously, I wanted to use the pregnancy time to research if needed. I know some people who skip these tests completely. I just couldn't worry one way or the other for 9 months. Keep in mind, an amnio is a choice and you should consider the risks along with other factors before making your decision. I think the risk of miscarriage due to amnio at your age is higher than the risk of trisomy defects.

When we went for our level 2, we first met with the genetic counselor to go over family history on both sides. I swear that was the scariest part. :) She went over all the genetic risks and discussed some things with us. We also went tests for other genetic disorders (ie tay sachs, fragile x) and took a blood test or two. We then met with the Dr and he did the level 2.

Level 2 sonos are kind of fun. You can see the baby moving around and s/he looks like a little skeletal alien (that freaked me out at first). The Dr will look over the baby and take measurements. I think we decided to do the amnio at that point. The amnio itself is not bad and is quick. You get to lie around for the rest of the day and get to take the next few days off -- no lifting, cooking, etc (or at least that's what my Dr let me get away with). It takes a couple of weeks to get the results back.

Hope this helps.

Like everyone else has said, the chance of false positives with this test is unbelievable. I honestly don't know why they do it, since its so unreliable. I skipped it and went straight to the amnio (advanced age and a family history that recommended it). I just want to put your mind at ease in case you do get the amnio...it's not as bad as everyone says it is. To me, it felt like a pinch. I had no problems afterwards although I did take the precaution and have that day and the next off of work. I was so scared because I had heard such horrible things about amnios, but mine really wasn't bad at all.

Often times you can get a positive quad screen and everything is just fine....Very often! I had a scare similarly, and had an amnio and everything was just fine......Keep us posted; you will be in my prayers!
K.

Do NOT spend your pregnancy being scared of "possibilities"! :) I have 2 sons, one is 16 and the other is 2 (I'm 42), and because of my diabetes, I also had to have a lot of testing done, even more testing with my younger son...In actuality, if you are constantly "worried" about what MIGHT be wrong or happen, you are actually causing more problems for yourself and your baby. Stress drives up blood pressure, etc.

Amnio's are very safe (yes, there is a small risk of something happening, but that risk is very small). The other thing is...if you DO find out that something is definitely wrong with your baby, you can use this time (your pregnancy) to find out more about it and prepare yourself for handling the needs of a "special care" baby. I feel at your age, though, that the chance of your baby actually having Down's Syndrome (aka Trisomy 21) is EXTREMELY slim.

Keep us posted, and don't worry. Everything is going to be fine.
:) :) :) :) :) :) :)

I am so sorry for this, I went through the same thing with my daughter . When the screen comes up "positive" it doesn not mean that th baby as the disease, just certain markers in the blood,chances are it is nothing. If they do not find any of what they call "secondary markers" on the levell 2 sonogram like heart defects or other signs of downs, they will probably pressure you not to get the amnio. I did have one secondary marker which was a CP cyst in her brain so I opted for the amnio and it came out clear. She is healthy and happy and I was soooo worried for nothing. Hang in there, at your age it is very very unlikely to be Down's and the quad screen comes up with lots of false posotives, especially with female fetuses (don't know what you are having though!) Good Luck and feel free to e-mail me at ____@____.com if you need any more info. good luck to you and your little one!

Hi V.,
I'm 24 and pregnant with my 3rd baby and had the exact same thing happened to me just a couple of weeks ago.
When I got the call from my doctor, my heart sank and I literally cried for almost an hour!
I was SO shocked that I've had 2 perfectly healthy children and never expected to get a call that my baby might have down syndrome.
He told me my levels were supposed to be at a 1 in 2000 chance and they were at 1 in 200 so 10 times higher than what they should have been.

I really freaked out and just thought for sure my baby had down syndrome.
I was around 13 weeks when I got the call and the same week went in for the second test.
It was called a CVS test and they inserted the needle through my abdomen (which I had no idea was going to happen) and took fluid from my placenta to have it tested.
If that's the same test you are going to do, do not worry. It's not painful, just a little scary and a little uncomfortable but not anything like I was thinking.

Within about 2 days I got the call that everything was NORMAL! YEAAAA!! : )
I was SO releived and so excited!
I was also able to find out the sex of my baby alot earlier than I was supposed to which was exciting....another boy! : )

Well, please don't panic. I'm sure everything's fine and I've asked around to alot of friends and many of them had the same thing with their test....first one abnormal, second one perfectly fine.

Did your doctor tell you what your baby's chances of having it were?
Also, how far along are you?

Let me know if you have any questions I can answer for you.

I had a positive reading as well. Come to find out my doctor put the wrong due date down on my lab work. It was off by 2 weeks. That made all of the difference in the world. My daughter is perfect. Could they be off on your conception date and or due date?

I had a positive quad screen with my son. I definitely know what you are feeling. More than likely everything is fine. That test has so many false positives it is unbelievable. I WILL NOT do the test with my next child. Don't worry (I know it's easier said than done). If you have any more questions feel free to e-mail me.