Just Diagnosed with After Having a Positive Quad Screen

My doctors don't even do this test because of the high chance of false negatives. If she said slight, I wouldn't worry about it.

Keep your faith L.. I am sorry you are going through this, I have had 2 family members with positive quad tests and their children are happy and DO NOT have DS. I opted out of these tests even with a high risk, b/c they are so often incorrect and cause too much stress on you and the baby. You can only take things in stride at this point in time, go throught the tests you feel are necessary. Will the chance of DS make change your love for this child?? It sounds like you are a very loving and concerned mother and only want to be prepared, but you can only control so much at this point. Try to relax and keep in mind that a child is special no matter what the disability. You and your family will be in my thoughts. Good luck.

I'm going through something similar. Except that my quad screen came back much better than I could hope for but my 20 week ultrasound had many soft markers for down syndrome. I've had two level 2 ultrasounds since and while some of the markers are no longer present there are still some troubling ones that indicate my daughter might have DS. I won't terminate but I do want to be able to prepare before my daughter is born so I'm waiting to have my amnio done until 30 weeks. The chance of preterm labor is still a small risk but 30 week preemies have a 90% survival rate, plus I can have steroids given to help her development. Hospitals often won't do anything for babies born before 24 weeks. Soft markers aren't very reliable way of telling you if anything is wrong but give you a better idea of the problem than the quad screen alone.

Don't let anyone bully you one way or another. DS is very managable nowadays and you can't have any idea of how severely affected a child will be until the child is already born. I am choosing to have the amnio so I can get the financial and medical help ready if my daughter has DS. Children with DS do better the sooner they start the needed therapies. I don't want to waste anytime finding the doctors a child with DS may need when I could have found them prior to giving birth. I see it as being a greater risk to my child's development if I find out after my daughter is born since there is less risk that the amnio can cause a problem but a delay in treatment will make my daughter struggle more. Plus, I have a son who is special needs already and the more prepared he is (and I am) will make the adjustment to having a special needs sibling easier.

Having an amnio done later was the best decision for my family but you need to make the decision that is best for family. The maternal serum test only gives you the chances something is wrong and doesn't tell you for certain. My chances for a problem was 1 in 6000, but it looks like I might be one of the few who got a false negative. False positive are much more common with the maternal serum tests. Amniocentesis is very accurate 98-99% and gives you a much better idea if your child has one of the specific things it tests for.

First of all I'm so sorry you have to be so stressed out right before the holiday. The important thing to keep in mind is both numbers. So for example. If your test comes back with a 4 in 100 chance that the baby has Downs. There is a 96 in 100 chance that the baby does not.

I am 19 weeks pregnant, and had tested positive for the quad screen. I went in today, for my high resolution ultra-sound, and it came back that everything was ok, except that they noticed a white spot on her heart, but he explained that years ago, that was supposed to be a sign of downs, but they have since learned, that that white spot, has been seen on normal, healthy babies also. He told me not to worry, every other test they have, to test for downs, showed no signs of it. If I were to ever become pregnant again, I would opt out of this test. It has done nothing but put a strain on my pregnancy, and I have done nothing but worry. After learning of this, I opted out of the amnio.

L.,

I was high risk with both of my children due to my age. I refused the afp test and the amnio the ob wanted me to have. My husband and I both felt that what would the difference be if we knew or if we did'nt know. My ob told me that you can usually tell the characteristics of a downs baby with a level 2 ultra sound. We waited an extra 2 weeks instead of 20 we went at 22 weeks. The Dr. that did my level 2 saw nothing out of the ordinary and said the baby looked fine. He was perfect all 10 lbs of him. My daughter, I was almost 40 and I also refused all tests for her. The only difference with her was that I did a 3D ultra sound and a fetal echo. Again all came out fine she was 10 lbs 8 oz. I do know someone who had all tests including an amnio that came back possitive for Downs and her son was perfectly normal. They claim that amnios are always correct in diagnosis well not with this one. You have to decide whether the results would change your feeling about having this child. If they do not then I would recommend you don't do the tests and just know that there is a chance and take care of yourself. There are chances of all kinds of health issues with any child. We just hope that god gives us all healthy children. Good luck on any decision you may make.

Mine came back with a 1 in less than 20 (I forget the exact but it was lower)chance of my daughter having DS. There is a lot of false positives with this test!!!! Anyhow, I was scared to say the least... not of DS but the unknowns! The Dr suggested I do the amnio to know for sure, so I did. Up until the time they stuck the needle in me I had no idea what I would do with the results. I was worried about some of the health problems that can occur and that scared me and I hate to admit it but even considered termination (only for a second though). Before I had the results I decided that no matter what this is my miracle baby and there was nothing that would prevent me from having her! The results came back from the amnio and all was fine and I had a healthy baby girl!

Now, here is my suggestion to you. What if the amnio does come back positive for DS? Are you going to terminate? If not, why stress yourself out over it. I know personally knowing what I do now, I would never have had the amnio. IT HURTS!!!!! Plus there is risks also involved even though they are small. Maybe you can do the special ultrasound... I think it is 4-D, it has been almost 3 years so I do not remember all the stuff I researched.

I have a feeling you already know and just need to let it out that you are scared! Also, talk to the Dr and not the nurse!!! While I respect nurses and most of the time I trust them, with something like this I would only speak with the Dr about it.

I will say a prayer that all goes well. Remember God only gives us what we can handle! Also, STOP reading all the scary stuff on the internet! Just read the responses you get from all the great Mamas here that can tell you personal stories and not all the mumbo jumbo you will read from who knows who! lol

Many blessings to you and yours!

i had my quad test and today they called and said it came back postive for ds...i am so worried....i go in to see a maternal medicne dr next wek or two for level two ultra sound

Hi L.,
I went through the same thing with my daughter. We tested positive for downs as well and I think our numbers were 1 in 250 or something like that. I was TERRIFIED! It was my first pregnancy and I cried and cried in the Dr.'s office when they told me. I went to a high risk OB because I too had gestational diabetes. I had his head nurse tell me how much she hated the test because they very often had false positives.
I had a level 2 ultrasound and a fetal echo, both came out completely normal. That satisfied us enough to not go through with the amnio. I researched it and my husband and I decided it was not worth the risk to the baby. We were going to love her no matter what.
My daughter was born completely normal at 6 pounds 8 ounces, despite the GD. Now she's almost 2 1/2 and she's very healthy and so smart!
I'm trying to get pregnant again and I've decided to skip the quad screen next time around because it was such a horrible thing to go through.
I know it's hard but please try not to worry too much right now because there's nothing you can do until you get more information. Worry and stress isn't good for you and your baby either! If you want to talk more about it, you can send me a message and I'll give you my email. But good luck to you with whatever you decide!

I myself have never gone through what you are but I know people that tested positive and delivered a happy healthy baby. I also know people that have children that have a more mild case of downs. I can tell you one thing these Children are very loving and have a much greater potential than you can imagine. Keep the faith.

God Bless
M.

I had a positive screening too with my first child. I did amnio right away and everthing came back fine. My now four year old son is perfectly healthy. When I was pregnant with my second, I skipped all the testing and went straight to amnio. I know too many people who had high risk numbers and were freaked out for too long. I needed to avoid any unnecessary stress while pregnant. Amnio is the sure-fire way to tell that things are ok. (It also tests for 40something other possible birth defects)
Take care,
K.

I tested positive with both of my kids and opted to not have an amnio due to the risks and neither have downs from here on out I will never get that test again.

I have heard of so many false positives! I've had a few friends worried sick their whole pregnancies and then everything was fine in the end. However, it is just my personal opinion but it is always good to prepare yourself. There is a wonderful book called 'Expecting Adam' by Martha Beck that details the story of her pregnancy with a downs baby. I think you will have a new perspective after reading the book and a calming sense that 'everything will be okay' no matter what the end result is. Best to you and your family.

early in my pregnancies, I had the CVS Chromosome Test done. (It has to be done between weeks 10-12). It was negative for any chromosomal disorders. The quad screen did come back positive, as well as a couple of other typical markers seen with DS that came back on u/s. Of course, since we had the initial test done, we knew they were false positives, etc, so it happens a lot.

Hi,

I went through this exact same thing. Lost my first and on the second, negative on the ultrasound and positive on the blood test. I want to tell you not to worry, but I know that you probably still will. Let me tell you this test has many many many false positives. Mine was false positive, as well as three of my friends. We all had amnios. If I was faced in this position again, I would have an amnio again. It made my pregnancy so much happier and stress free. I know you said you would not have an amnio, but you did not say why. I know there are risks. I also would not terminate if it was positive, but then I would be able to prepare and start lining up therapies and just be more intelectually ready and prepared with reseaRCH.

Good luck to you and I will say a prayer, literally....odds are you will be just fine. Look at the positive odds and concentarte on that. They really are in your favor.
Good luck to you and your precious treasure.
B.

This test has a lot of false positives. I would try not to stress too much about it if you can. Also put some thought into what you would do if the baby has down syndrome. I chose not to do the quad screen due to the high rate of false positives and I would not have an amnio due to the risk of miscarriage-- I also would not terminate so that is your decision to make. Ultrasound can often pick up the markers for downs without having to have an amnio.