positive Trisomy 18 AFP screen

L

LHK

Cathlete
I am writing this post in hopes of getting some reassurance from all you wonderful ladies. I am able to write this without crying because I am just coming off 5 days of crying and worrying and I am just tired. Last Thursday we had our 18-week sono and found out the joyous news that we are having a boy (YAY! We have an 18 month old girl, Alyssa) but that my AFP screen came back positive for trisomy 18, meaning all three chemicals were low. I'm 32. (Actually turning 33 tomorrow)

So I was sent for a targeted sono, which was yesterday. This boy looks totally fine (brain, heart, valves, limb length, etc) with one exception. His one foot looked odd, with a splayed big toe. The geneticist was concerned and encouraged the amnio. He even showed us a photo of a trisomy 18 baby with the same type of foot appearance. We were planning on resting with a good sonogram, but because he found the foot anomaly, we decided to have the amnio.

The procedure went well and I have not bled or leaked (it has been over 24 hours) so at least that part is ok. The Dr said we have a 1/38 chance that this baby has trisomy 18, which (as you may know) is fatal, and there would be a 95% chance that he will die in utero. My question is, has anyone out there had a false positive for trisomy 18? I have heard about false positives for Down's, and I saw one thread about one wonderful woman's baby who had trisomy 18, but I haven't come across any false positive stories. Can you help?
Thanks, Lisa
 
Oh Lisa,

Sorry I can not help you or give you any advice on this.

I just wanted to let you know that I will be thinking of you, your DH and your little one. Hoping and praying that all we be okay. I am so very sorry for your troubles...I can not even imagine how you feel right now so I won't pretend to try.

Just please keep us updated on the situation.
We are here for you to lean on.

~Wendy~

http://www.bullmarketer.com/modules/coppermine/albums/userpics/Sports/exercise/thumb_exercise15.gif

http://www.picturetrail.com/gallery/view?WENDYMIN
 
Hi Lisa,
It is my understanding that there can be lots of false +'s for all of the diseases that the AFP tests for... The AFP is a screening test so a negative *is* a negative but a positive isn't really a positive for anything.
As for the US you had, you could talk to the US tech and find out what other indicators there are for Trisomy 18 on the US exam. It sounds like your son *may* have exhibited just one of the indicators but I'm betting that there are many, many more that he didn't have.

Prayers for you while you wait for your anmio results. Did they say how long it would take 'till the results come back?

Michele

PS Here's a link to a journal article that indicates that heavy women commonly have false+ AFP results for Trisomy 18. I don't know if you are "heavy" or not but if you are this might make you feel a bit better.
http://www.greenjournal.org/cgi/content/abstract/90/6/938
 
Hi, Michelle,
We had a false AFP screen positive Down's syndrome. Then we had an ultrasound with another "problem" that our daughter had an enlarged head, which was another indicator for Down's syndrome and also her size was small for her gestational age. After she was born, they were still somewhat unsure and she was tested for the possibility of Mosaic Down's Syndrome, which means some of your chromosomes are genetically DS and some are not, but you still have the typical mental differences commonly associated with DS.

Anyway, she is FINE today. My other daughter was given a 10% chance of surviving pregnancy due to some complications with the placenta, and she is also fine. I know that one person's story does not have much bearing on yours, however....like Michele above says, a positive isn't a true positive until all factors are known. I found a little denial to be a very good friend to me. If, in fact, my children would not survive or would have some debilitating disease, I would have to ask for the grace to deal with it, when it came to fruition. We did lose one, and I will tell you that by the grace of God and with the help of very good friends and family, we were able to continue to find joy in life after the storm passed.

Many blessings on you!!!
Amy
 
I had a false positive Triple Test for Downs. Level 2 ultrasound came back normal. You are in my prayers. FYI, I would not ever, ever, ever, ever get the triple test again. It certainly robbed my pregnancy of a lot of joy.
Amino is the only way of knowing for sure. Please update us when you know. :)

**Melanie**
Justin born 1/17/04
Jory born 4/9/94

" Take care of your body like it will last a lifetime. Take care of your soul like it will last for eternity"
 
Thanks ladies for your kind words. I know that false positives are common for the AFP screen, but I also know that false positives are way more common for Down's or spina bifida than for trisomy 18. Thanks for that link Michele, I did find that article in my research, and no, unfortunately I am not overweight. That is one of the articles that concerned me more, because it says that lots of false positives happen if you have the fetal age wrong, or if you weigh more than about 175. They say, those two factors aside, the test is pretty accurate. We know my fetal age to the day, and I weigh 120. So I am still just beside myself and trying to get by day by day. The amnio results will be phoned to me on Monday or Tuesday, January 17 or 18. I will update you when I know more.
Your prayers are appreciated. Lisa
 
My god, Lisa, I can't imagine the emotional state you must be in during this terrible waiting period. I am fervently hoping that all turns out to be just fine for you and your baby.

Sandra
 
Lisa,
(I'm sorry I called you Michelle last post)
I will pray for you over the next few days! I know the wait is agonizing.
Amy
 
Lisa:

I understand this is a very difficult moment in your life. I will also pray for a healthy baby. I read you know about the death rate in babies with this chromosome abnormality, but I found big kids that are big miracles. I included the site for whenever you feel ready to review it, only if you wish to. God bless your womb.

http://www.thehealingpowerofprayer.com/album.htm
 
I hope this helps. I had a false negative with my son who had Trisomy 18. My triple screen came back negative although he did have Trisomy 18. So the triple screen is not always accurate with Trisomy 18. Kim
 
Well thank you ladies, I think your prayers are working! I got the preliminary amnio report yesterday, and it shows that out of the 49 cells they checked so far, ALL 49 of them are normal! (46,XY) so it is really looking like this is a genetically normal Boy!
The lab has one more petri dish to check, meaning about 20-30 more cells, but after doing a lot of research I found that even in its mosaic, or partial state, this disorder usually shows up in the cells at a rate of 9-100%. So to have 49 cells and no abnormalities is very promising. If he had a mild form, we would have seen 5 abnormal cells by now, statistically, at least. So we are beginning to feel the clouds parting now, and I will be sure to let you know the final results when I get them, which should be by Friday. :)

One thing I have learned in this, is that the most painful part of dealing with these things is the mental preparation. Becoming "mentally prepared" to lose this boy of ours, or to have a funeral this June, or to no longer be pregnant, or whatever, was a long and sad journey of pain. And it is really the hardest part I think. I'm not sure what that means, but I guess I'm not thinking too clearly yet.
THANKS AGAIN, you are all such wonderful ladies.
Lisa
 
I am so glad for you that things are looking good. Although I didn't post before i have been anxously waiting to see that your little boy is healthy.
 
Lisa, So good to hear your news . I will keep praying for you. Keep us posted.. Old mom here :) :) :) Hugs to you and pat your belly for me if your ok with that.:) :) :)
 
Oh, thank heavens Lisa!!! I can't imagine the relief you must be feeling right now. Thank you for updating us. I hope all stays looking so good!

Sandra
 
I just came upon this thread and am so happy to get to the bottom and see that things are going well!

I will keep you and your family in my prayers!

Leigh Ann
 
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