Trisomy 18 Quad Screen Positive HELP

48 Replies
Mandi - August 19

I just had a quad screen run. I am 26 and pregnant with my first child. My levels indicated a 1 in 86 chance of having a child with Trisomy 18 (also called Edward's Syndrome). From what I understand, to have a false positive with this test three hormones have to have a low level. My question is how does miscalculated due date effect the results of these tests? I know the incidence of false positive is high, and my doctor attempted to reassure me with the fact that I have an 85 out of 86 chance of my child not having this condition, but it is a bit unsettling when you think that the others (ie Down's Syndrome --- trisomy 21, and tube defects) came back with a 1 in 5000 chance. Anyone else have anything to add to this? False positive for Trisomy 18? Please help.

 

To Mandi - August 20

My Dr. just screened me as well and said that the chances of a false positive are extremely high. She said if they are off on your due date by even a few days (which is almost everyone) the hormone levels measure drastically different...if it helps my friend had a 1/31 chance and her son is perfectly healthy and beautiful!!!!! Don't stress it just makes it worse leave the stress to your husband or someone close to you...that is what I do...I just go with the flow and let everyone around me worry after all stress can do the most damage on the baby anyway!!!! GOOD LUCK!!

 

jj - August 20

I'm just wonderign why you didn't get the test till this late??? My Dr. gave me a pamphlet on the tests and it said that you need to have them done between 13-16 weeks ( I think. I did mine at 13) It said the further along you are the less accurate the test it. I would maybe talk to the Doc about an amnio test to get a better idea of what is going on.

 

Mandi - August 23

Thanks to all for your words of encouragement. I had an ultrasound done early in pregnancy, and they estimated the due date to be February 7th....this was around week 7 or so. I later had an ultrasound around run around week 13 and they estimated the due date to be January 30th (one week sooner). I was told that the sooner you have the first ultrasound run, be better you chances are at determining the estimated date of delivery. I just hope for my sake that the due date is simply miscalculated, and it is not a genetic disorder. As for the reason for having the quad done at week 16, this is when the doctor suggested. I was told week 15-16 would be the best, and they scheduled me on what they believed to be my 16th week. Perhaps, they should have run the test a bit sooner. I have considered the amnio, but I have to wait to get the results on the level II ultrasound, before they will schedule me for the procedure. This is all a rather scary thing. The quad screen values are often elevated when you are older (increased maternal age), but I am only 26. This leads one to believe that it is all in the due date. All I can do at this point is hope and pray. "To Mandi" thanks for the words of advise....it does help to hear when someone or their friend has experienced a something similar....the story of your friend has given me some rea__surance. I have tried to "hand" over some of the stress to the daddy, and he is more than happy to take the stress off of me and put it on himself when he can. He was married before, and has three children. His ex-wife went through a similar situation with her blood tests early in pregnancy with her first child. He tries to rea__sure me that all is fine....he says he has a second sense for these sorts of things, but I will feel much better after I know for sure. I am scheduled for the second ultrasound on the 6th...and I just can't wait. Such a long 2.5 weeks, especially when something so precious as a child is on the line. Thanks again to all. If you have any more words of advise please be sure to leave them here.

 

Rhonda - August 26

mandi just wanted to tell you, you are not alone I just came from my doc a few minutes ago and was told my screen came back 1/41 for the same thing I am 35yrs old I am scared to death right now I am schelduled for a level 2 sono for 9/2 and that is a week away so now I worry for all that time plus if that comes back which the doc did tell me when I go for my level 2 my chance of 1/41 will change to a higher percentage but I am just so worried right now I wish I would never have taken the test cause I really wanted to enjoy my pregnancy it will be my last due to my age and the fact I have 2 kids so far and they are healthy please post back and keep me updated maybe we can support each other thru this good luck to you

 

Mandi (to Rhonda) - August 26

Please check out another forum...."Quad screen Scare". This is a lady that is 31 and her quad also came back for high risk for Trisomy 18. It is nice to know that other women are struggling with a similar situation....not necessarily settling, but atleast we know we are not alone. Best of luck on the 2nd. Let us know how you make out. I will do the same (6th for me).

 

Rhonda - August 26

Mandi thanks for posting back I will pray for you as well and I will let you know what I find out on the 2nd and will be looking back to see what is going on with you also and I will check out that post you mentioned gosh a week never felt so far away and I am sure you can relate to that since you have to wait even longer...but I have been on the net checking out the false positives for this test and every one I read said about only 10% of women who show a positive acually have a child with a defect so that makes me feel a little better hope it helps you as well

 

Rhonda - August 27

Mandi I have been checking lots on the quad/afp test and there is only 5% that come back with pos results and of the 5% about 90% have healthy babies I just thought I would share this info with you I am sure you have done your share of research as well but it does make me feel somewhat better also there is a great posiblity when we get our level 2 sono that they will be able to let us know alot more so until then I am going to find something else to think about I really think that they should not offer this test to women I have also found that there is a chance of a false neg and you think all is fine and then there is a problem the % is higher for that to happen as well so all the women who think that their blood work came back fine are not really in the clear well please keep me posted I really feel alone at this time thanks

 

rhonda - August 31

hey Mandie where are you? Madison the other girl in the same boat got good news so I hope we will as well just wanted to check and see how things are going keep me posted will be praying for you as well we just need to keep our thoughts positive and I feel lots better since hearing from Madison make sure you check it out!!

 

Rhonda to Mandi - September 2

Just wanted to let you know I just got back from my level 2 and I am sure this will be the same for you but they explain everything to you and you can make up your mind if you want to have an amnio right after you find out what the sono is saying mine said everything was perfect! they found NO MARKERS AT ALL so my chances tested at 1/41 and your 1/86 so you should be fine I know you will have good news as well as Madison and I did they good things happen is 3's and well girl you are 3 please post back when you find out something just pray if you believe is God I sure prayed more than I have in my whole life!!! Best to you....you will be in my thoughts

 

Mandi - September 2

I go for my level II on the 6th. I have been out of town on business, so this helped to keep my mind off of things for the time being. I am back and can't wait for Tueday (8:30 AM) to get here.....I will keep you all posted.

 

Rhonda to mandi - September 2

Glad to hear your ok just hang in there I know it is hard it is like your life is on hold but it will be ok hopefully you will get to speak with a gentic counceler and they will tell you the test is just a screening test that is all mine told me I only had a 3% chance of my baby having that defect and 97% chance that it was healthy!! and mine was 1/41 that is would have trisomy 18 so your way more than that and Madison had 1/15 and all is well with her check out her posts her amino came out fine I opted not to have it due to the risk and when I had no markers at all showing on the sono I just did not want to take that risk with my baby!! Oh and I found out we are having a boy the level 2 sono is really great you get to see your little one moving and kicking all around it is very rea__suring so hang in there!!!

 

rhonda to mandie - September 6

just wanted to wish you luck for your level 2 I am sure all is going to turn out well for you...let us know what you find out i will be checking thru out the day to see if you posted.....

 

Mandi - September 8

I went for my level II on the 6th. They found two soft markers for Trisomy 18....echogenic bowel and choroid plexus cysts. I went later that same day for genetics counseling and then for an amniocentesis. I told the counselor that I thought my due date had been miscalculated---as I had gone for an ultrasound at 7 weeks and they said my due date was February 7th. At my 13 weeks US, they informed me that my due date was the 30th of January --- mind you I had these US run at different facilities due to moving. Anyway, I asked the counselor if it was possible to recalculate my risk at this 1 week later due date, she did, and my risk went from 1/86 to 1/224. Coincidentally this placed me in the SCREEN NEGATIVE zone. I had called my doctor after the quad screen results (3 weeks ago), and had asked them to do the same. She told me she could not do this for me, and I would have to wait for my level II. Needless to say I will have some complaining to do at my next OBGYN visit. I mean this took the counselor all of 3 minutes to call the blood service company and ask them for a recalculation. I would still have gone through with the level II and possibly the follow up amnio, but it sure would have made me feel alot better if I would have known this three weeks ago. I would have also had more time to consider/reconsider the amnio. I hope to have the results of this amnio back in 8-10 days, and they will call as soon as the results become available. Hopefully, I will have rea__surance that all is OK by the end of next week. I did get a bit of good news....IT'S A BOY!!!! But I can't be too sure until after the amnio results come back. For those of you who don't know, the incidence of Trisomy 18 is 3:1(female:male). So, finding out I was carrying a boy made me feel a little bit better.

 

Rhonda to Mandi - September 8

I posted a message to you on my thread but one thing I forgot to ask is what is a echogenic bowel? I have read about the cyst and that can be on a normal healthy baby I just had not heard of the other and also were they able to see the heart good? I read and was also told by the doctor that went over my level 2 that all babies with ds and trisomy 18 have very serious heart problems...so if they were able to see the heart good then everything should be fine...I was lucky my baby happened to be in the right position and they got to look at the heart very well in fact the doctor commented that the tech got alot of pics of the heart and it was fine.....well hon keep me posted I will be praying for you I know how you feel with the waiting and if you need to talk or vent or whatever I will check for your post I don't know if your husband is very supportive mine is great just does not know how to handle things when I get really upset so it was hard I felt like I really had no one to talk to thank God my sister in law is great and I just cried my heart out and got it all out before I knew all was ok and even though she was not sure what to say to me just listening made me feel tons better!! Another thing that helped me lots was prayer I am not a reg church goer or anything but I prayed more than I have in my whole life!! I have been thanking God daily since I found out all was ok!! keep me posted....

 

Elizabeth - September 8

I do not have an answer for you. I am scared to death. I am 16.5 weeks and my quad came back 1/21 for trisomy18. I have an amnio in one week and do not no quite how to cope until then. PRAY.

 

Mandi to Rhonda - September 9

Unfortunately, the baby did not fully cooperate for the level II. They were able to get decent pics of the heart, but not all of the targeted shots. One rea__suring thing was the doctor said the shots they were able to obtain looked good....so now I just have to hope that all is well. As for the echogenic bowel, this is a condition often seen in DS babies. However, it can be seen with any chromasomal disorder, which is why he recommended the amnio. He also told me that it is common to see this in other circ_mstances as well (ie bleeding early in preg that I was not aware of --- baby ingested some of this and now it displays as an area of lightening in the bowel, infections like toxoplasmosis or CMV or parvovirus, bowel obstruction, or simply nothing at all). From my numerous searches on the internet, the latter seems to be the most common. They say that this is often seen in the second trimester and is no reason for concern, unless there are other reasons for concern...which for me was the high risk from the quad screen. This seems to be the norm....they see things with alot of babies, but there is just extra procaution needed when you are already at high risk. Then this whole thing with infections....CMV, parvovirus, and toxoplasmosis. Most of these infections are fine, until you have an acute infection while pregnant. This is fairly uncommon, but it can happen. I know for a fact that the toxoplasmosis from Toxoplama gondii can cross the blood brain barrier....this is one of the few parasites that can do this. Most often you can contract this from undercooked red meats...right now I can't even stand that thought of eating meats so no need for concern there....but the second stage of the lifecycle can be contracted through a cat's feces. I was tested early in pregnancy to see if I had been exposed to the bug at any earlier time before becoming pregant...I tested negative....which is a bad thing. You want to actually test positive for this one, which means your body has been exposed to the parasite before. This was kind of shocking to me, as I had volunteered at an animal shelter for about 4 years and I worked at a vet hospital for an additional 3 years....you would have thought some where along the line that I would have been exposed. Anyway, sorry for the rambling, but I have been having the significant other change the litter pan to decrease my exposure to the potentially harmful parasite. As for him....he has been the greatest. I could not ask for a more supportive partner. I thank God every day for the moment he brought him into my life. He says that all is fine, and rea__sures me on a daily basis. I know he is only trying to help, but it is just so hard to get them to understand. He only wants the best for me and the baby....who could ask for anything more...especially in a world like today. All we women hope for is a normal pregnancy and a healthy baby....I mean I have been waiting for this moment my entire life. I am young and nothing like this is supposed to happen to me, RIGHT? But then, you get back results like this and you just don't know which way to turn. I, like you, have just put this one in the hands of God. He is a much greater power than I. I still worry, but I know that all of this stress is not good for myself or my baby, so it is best that I just set back and let nature take its course. I want to thank you for all of your words of hope. I don't honestly know what I would have done without this website to provide some kind words of compa__sion. God Bless.

 

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