Abnormal Quad Screen Results

Updated on July 12, 2010
A.G. asks from Rush City, MN
23 answers

My doctor called me last week and told me that I had abnormal quad screen results. I have a 1 in 18 chance of having a baby with Down's Syndrome. I am 21 years old and 18 weeks pregnant. Im perfectly healthy and have a perfectly healthy 17 month old son already. Has anyone else had abnormal results and gave birth to a healthy baby? I haven't had a single ultrasound yet and am currently in the process of getting an appointment with a perinatologist. My doctor is not being very helpful at all either.
All I have been doing is worrying and crying. I havent even gone to work for 4 days now. I told my doctor I wanted a prescription for sleeping pills or anti-depressants and I was not taken seriously.
Abortion is not an option :)

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So What Happened?

Thank you for all the support and info. I had my perinatal appt today (july 7th) and after the level 2 ultrasound, they found NO markers for Down's and suggested that I have another quad screening done instead of the amnio. The ultrasound showed that I am less pregnant than what was expected and that is probably what skewed my quad screen results. I will find out the results from my quad screening in a few days. Hopefullt they come back better than last time now since they have the accurate dates. I went to one of the best perinatolgist clinics in Minnesota so hopefully they do not mess up like my doctor did.

Featured Answers

L.C.

answers from Janesville-Beloit on

I was considered 'advanced maternal age' when I had my 2 little ones. (In other words I was old...LOL). My doctor gave me the option to have the screenings or not. He asked me if I had the tests and something was wrong what would I do...my answer was nothing, so he said why worry about it. I did have a level 2 ultrasound done, where they look more carefully for other signs and nothing was ever seen. I have 2 very healthy little girls.

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L.D.

answers from Albany on

The only way to know anything for sure at this point is to have amnio done. Do not do CV Sampling or whatever it's called. Once it was pegged as being safer but most doctors I know say it is actually more dangerous.

If you were not so far along, I would have suggested they do a nuchal screening. It's a sonogram where they measure the fluid at the base of teh baby's neck. Honestly, I would think they should still be able to tell even at a sonogram now but just like the bloodwork, it's just a screening. The only absolute is amnio.

While I can understand you being upset, does it change you wanting this baby? If it does, PLEASE don't do anything based on a screening...get the amnio done.

Your doctor probably didn't give you a prescription because it isn't in the baby's best interest for you to be taking sleeping pills or anti-depressants. Like your doctor said, the screening said a 1 in 18 chance...that does not mean you are guaranteed to have a baby with Downs.

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J.S.

answers from Fargo on

I think you will feel better once you have the ultrasound. However, I am not sure why your doctor recommended this test for you? A healthy 21 year old who has already gone through a healthy pregnancy? I know docs like to recommend these tests, but they are not a necessity. My doc never recommended them for me and I had my three babes between the ages of 27 and 31, all perfect. My sister had them and had an abnormal result that she was worried about her entire pregnancy, she has a healthy baby girl. I know there are reasons to have these tests. Usually they follow the ultrasound presuming the radiologist finds something unusual on the screening. I would try to put this out of your mind because the odds are on your side. And for cuiosity sake you should maybe ask your doc why she felt it necessary for you to have the quad screening.

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E.B.

answers from Duluth on

I'm at the same point in my pregnancy, and, with my previous two children, we never had the screening done. I have a new doctor now (due to a move) and she also recommended not getting it done. She knows I'd worry about it, and sicne I have no risk factors, she said my rate of false positives is actually higher because I'm healthy, so it's not worth it unless I really want it. That said, I'm pretty sure Unisom is considered ok for pregnant women; I took it with my last pregnancy when I had anxiety and insomnia, as prescribed by a doctor VERY reluctant to prescribe anything. Most likely, your visit with a perinatologist will go well and you will find out things are fine. My guess is, it's the not knowing part that makes it hard. Think of it this way: you say abortion is not an option; is having a Down's baby all that awful? I worry about those things too; I want a perfect baby...but I also strongly believe that if I'm given something else...perhaps it was given to me so that I can learn from it. If my baby is deformed...or unhealthy...I will still love it...there WILL be disappointment...but it will still be my baby, no matter what. Good luck; I know waiting is hard.

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A.R.

answers from Omaha on

I've had 3 kids. I did not do the quad screen with 2 of the 3. One main reason was it has a high rate of false-positives. The other was abortion was not an option, so it didn't matter. With my middle child the measurements were not right at my ultrasound as well as a possible shadow somewhere else. They sent me to do a level 2 ultrasound. they redid measurements and said they are normal, just the higher end of normal. We think everything is ok. The offered to do an amnio. but I declined. In the end I have a "normal" healthy 3 year old child. I guess my point is relax, and try not to worry too much. You'll find out more once an ultrasound is done. Just because something doesn't look normal doesn't mean something is wrong. Doctors still don't know everything. There is no 100% way to know until after baby is born so try to relax and enjoy the rest of your pregnancy. Easier said than done, I know. If in the end you do have a child with Down's Syndrome look at it this way: Life may not be easy, dealing with a chid with a disability is hard, however, children with Down's Syndrome are the sweetest, most loveable children around!!

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S.H.

answers from Lincoln on

Hi A.,

I am sorry to hear you are going through such an emotional turmoil. First, please do your best to relax. Get a massage and try meditation if you can - I know this scary and you are feeling like these things won't help, but they will if you give them a chance.
I believe the reason your doctor did not take your request seriously is because anti-depressants and sleeping pills are very dangerous to the fetus. Taking medications like that are similar to drinking alcohol during pregnancy.
1 in 18 is about a 5% chance or a 95% chance of having a healthy baby without downs.
In any case, if you take steps to relax and let the worry go both you and the baby will be healthier for it.
Praying for you and your family,
S.

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J.A.

answers from Omaha on

First of all, get a new doctor. If a dr is not listening to you or not helpful, then this is not the person you want in charge of your health or in a delivery room with you. A midwife would be a good solution as well. I am an older mom and I didn't do the quad screen with either of my kids, because I knew there was a good chance of a false positive. Both my kids are healthy, happy and wonderful. It is hard to put this aside, but know that your chances of a Down baby are very slim.
Take care, find a midwife or new dr. and put this aside. You will likely have another healthy baby, just like your son. Focus on that.
Know that should you have another baby, you won't do the quad screen again. It isn't worth the worry, especially since you are young, healthy, have already had a healthy baby, and have no other risk factors.
Enjoy this wonderful time in your life... your son is about to become a big brother and your beautiful family is growing.

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A.H.

answers from Omaha on

I wish I could give you a big hug!! My first pregnancy with my son was textbook perfect. My second pregnancy came complete with terrible morning sickness and my test also came back showing some concern. If I remember right women over 35 have a 1 in 300 chance of having a DS baby. I was already 37 at the time so my chances going into the test were 1 in 150. My bloodwork results came back 1 in 85. My doctor and husband weren't terribly concerned and that helped calm my nerves too. A friend of mine said her test was a bit skewed because they actually had her due date wrong so the test was done earlier than it was supposed to be. Perhaps something like that happened in your case as well? There are all sorts of factors that can skew the test. Did you also have the ultrasound too? Was there any sign of a nose bone forming? My doctor said lack of a nose bone can be a sure sign of a concern since most DS babies have flat faced features. My ultrasounds looked good, but it was just my bloodwork that was off. We chose not to do an amniocentsis but you could do that for 100% clarification if you feel you need that peace of mind. However, there is a small chance of miscarriage with it, so that is why we chose not to do it. Abortion was not an option for us either, we just put it all in God's hands and new everything would be all right. My baby girl is 15 months old and is happy, healthy and very smart.
Another good friend of mine had a daughter that this happened to as well. I believe her daughter (my friend's granddaughter) is now about 12 years old, so technology was pretty advanced at that point. Her test was so terrible, they weren't sure if the baby was going to have DS or spinabifida (sp?) or what, but her doctors actually encouraged her to get an abortion, but that was not an option for them either. Their daughter is absolutely stunning, smart, popular, you name it. It just makes me ill to think about that terrible advice on the part of her doctors!
So in short, hang in there! These tests are wrong all of the time. You said are a young, healthy person with a healthy child already, so I would put more stock in that instead of this one test. Keep us posted. I think your baby is going to be absolutely perfect!!
HTH,
A. :-)

D.G.

answers from Lincoln on

I've known 3 people who had abnormal quad results... and none of them had a baby with downs. I know a 4th who is due in a month - she didn't go on with further testing either and does not know. My doctor wanted me to do the quad screen because of my age 41, but I didn't and my baby was born without anything they would have screened for. ...If your doctor didn't take you seriously you should talk to someone else in the office - Physician Assistant or Nurse Practioner - or even find another doctor. Depression in pregnancy can be a very serious thing!

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S.D.

answers from Minneapolis on

I had abnormal results. I had an even higher risk. I did have the amnio to find out for sure, and had healthy, normal babies. It was very difficult not knowing if something was wrong with our babies. Even if there was, it would not have changed anything, we would still have had our babies. My reason for wanting to know was, if we were having a baby with down's syndrome, I wanted to learn everything I could before the baby was born, to prepare myself and our family, so that we could be the best parents possible for that baby. Like I said, we had healthy babies. If I were to be pregnant again and have an abnormal result, I would not worry about it, would not do an amnio, I would just know that is how I test.

Good luck to you. I hope your doc can answer questions for you and calm you down. I was a young mom with my first child and found I was not taken very seriously at times. Most meds are not good for you to take when pg and the doc probably did not want to put your baby at risk.
S.

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C.B.

answers from Des Moines on

I had an abnormal result with my third child. At your age it would be very rare for you to have a child with Down Syndrome. Typically, children with Down Syndrome are born to older women. Also, what is a normal result varies from week to week in a pregnancy. The doctors were off by quite a bit on my due date and realized that when they did an ultrasound. Once they had my due date right, they went back and redid the test. It came back normal! My daughter was born healthy and with no problems.

I wish you the best of luck with this. No matter how it turns out for you, it will still be your baby, and you will always love it! My uncle has Down Syndrome and he is the sweetest, most loving person I've ever known. There are plenty of worse problems for a baby than Down Syndrome. Take a deep breath and remember that every child has their challenges, and as a mother, you'll be there to help them get through.

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M.

answers from Minneapolis on

I honestly would not worry about it. There are a lot of false positives and really it is what it is. There are many people who get these results and have healthy children! I actually opted out of this test because they are not accurate all the time and scare people. The only way to really know is to have an amnio and in youre case that will not change anything. Think about switching MD's. Amnios are nice because you can get prepared and educated prior to having a child with needs. Best of luck!

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G.N.

answers from Minneapolis on

I had similar results. Trya nd get into the perinatologist as soon as possible. Please be aware before you have your ultra sound they will most likely have a long appt to discuss your other results and what it could mean to you. I thought this meeting was very unsettling. I went into my ultra sound knowing that I was not going to do anything to stop my pregnancy, but wanted to know how to prepare in case I were to have a special needs child. I was fortunate that I had a false positive on the quad test (which is common by the way). My son is now four and very healthy. I hope your results are similar. Another thought though is that I may consider changing doctors if yours is not listening to you. Your dotor should be taking your requests seriously and at the very least offer an appt.

I wish you all the best with your expanding family.

G.

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L.S.

answers from Charlotte on

Bless your heart. I have been in your shoes. Getting that abnormal result back was the worst week of my life, because I was so afraid of what it could mean. In my case, it meant nothing. My son is 2 1/2 and completely healthy. I'm 14 weeks pregnant now and have opted not to do the tests again because of the stress that they caused. I agree with DanaW below, talk to your doctors and ask for help dealing with the stress and anxiety.

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E.T.

answers from Rochester on

When I was pregnant with our daughter I had the screening done because of my "advanced maternal age" which already put me at a higher risk for Downs. They did blood work and also an ultrasound to measure the fluid at the back of the baby's neck. The ultrasound was fine, but the bloodwork showed a 1in 60 chance of Downs. I was really scared. I've worked off and on with people with Downs for about 25 years so I knew what we could expect. I knew we would be fine and that the hardest part would be coming to accept what would be normal. We chose not to do an amnio because there is a slight risk of miscarriage and I had just had a miscarriage scare the week before. I couldn't handle the stress of that. Our daughter will be 3 this month. She was not born with Downs. When I was pregnant with our son we chose not to have the screening done. The stress wasn't worth it for us. We knew that knowing wouldn't change anything. Our son will be 1 next month. He was also born without Downs.

I know it will be hard not to worry. One of the things that helped me mist was something that the genetics specialist told me. She said that having a 1in 60 chance meant that if I had 60 babies, maybe one of them would have Downs. That made the odds seem not so scary.

There are some great books out there about babies with Downs. Look at the Down Syndrome Society web page. They have tons of resources.

Talk to a pharmacist about what over the counter sleep aids you can take. They can also let you know what precriptions would be safe for you to take. My husband is a pharmacist and I swear he knows more about what is ok than the doctors do. A pharmacist can at least give you an idea of specific meds you can ask your doctor about. If your doctor isn't taking you seriously find a new one. You will be under enough stress without having an uncaring doctor as well.

Try not to worry. No matter what happens you will have a beautiful child that you will love beyond belief. It may not seem like it now, but this will make you a stronger person and a better mom. You will be in my thoughts and prayers.

D.K.

answers from Sioux City on

Honey, I promise it will be aright. Just rest. I have been through the death of several of my children and I can't tell you the agony, but you come through on the other side. You live and everything works out. Just concentrate on the wonderful moments. Each time that baby moves is a blessing. I have had a downs child and I can tell you she was just an angel and a blessing. I am so thankful for her life. She was born for a very special purpose. Take a breath and thank God for this special little life you are carrying. Leave the rest up to him. What ever happens just trust that God has something better than ever planned for you and this baby.

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B.P.

answers from New York on

My sister in law had even a higher likelihood of downs based on this, she was just a few years older than you though. Before the amnio, the doctor was pretty certain that the baby would have downs syndrome. But the amnio came back normal and she had a healthy baby girl. Try not to worry too much...your chances are good that the baby is fine.

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L.O.

answers from Detroit on

have an amnio. it is the only test that gives teh absolute answers..

I have had 2 amnios.. it hurst for a minute.. but then you will know for sure..

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J.M.

answers from Iowa City on

My quad screen results came back having an increased risk of our daughter having Down's as well and it turned out she did not. Our appointment with the perinatologist was very reassuring. While an ultrasound does not provide a definitive diagnosis, there are so many things they can look at that give them more of an idea. I was a NICU nurse for 9 years before becoming a peds flight nurse and I knew way too much about the problems associated with Down's, like heart and intestinal defects. That was why I wanted to have the more detailed ultrasound. There was nothing I could change if my baby had Down's syndrome, but if there were other congenital defects that we could prepare for or find other doctors for, I wanted to be ready. I would do the quad screen again if we decide to have another baby. While I was worried and upset when I first got the results, I would have preferred that to being completely unprepared when the baby was born. I would start looking for another doctor if you have not been completely reassured by your current one. You can also ask the perinatologist if they would recommend anyone.
Try to relax and enjoy your pregnancy and your little boy!

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D.W.

answers from Indianapolis on

Lots of people have abnormal quad screen results and go on to have perfectly healthy baby just as many people have normal quad screens and have babies with birth defects from genetic variances. The screens are highly inaccurate (which is why we opted not to have one either time).

I'd recommend calling your OB back, explaining that you don't understand well and ask them to go over it in detail with you (so you can reduce your worry and anxiety).

I hope all is well. Here is some information that may help in the mean time:
http://www.acog.org/publications/patient_education/bp133.cfm

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L.

answers from Minneapolis on

I know how you feel because my oldest son was tested for down's syndrom when he was about five months old. I cried so much. I took him to church for prayer also. The doc's said he was fine, and now he has a degree in physics, and in math, and in computer science. People with Down's syndrome have one crease across both hands instead of two, and my son has one crease across only on hand, which the doctors said is a trait some doctors have.

Keep in mind you have a 17 out of 18 chance of having a normal baby!!

Besides, what is normal? We all want the best for our babies, but sometimes we are looking so hard we miss what is there. My youngest son was diagnosed with schizophrenia. But he is also gifted in music, and a sensitive, caring person.

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S.O.

answers from Omaha on

My heart goes out to you. It is very scary to get an abnormal reading. I can only suggest that you focus on the fact that you have a 17 out of 18 chance of having a baby without down's. Those are pretty good odds! I would suggest that you consider getting some counseling to help you face the possibility of a child with down's and be at peace with whatever happens. The truth is you are going to love this baby no matter what. He or she may have some special needs but will still be your baby who will also love you. I wish you the best.

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K.N.

answers from Minneapolis on

I asked virtually the same question about 8 months ago. My little girl is perfect!

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