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Bad news 1 in 127 for downs

July 10 2012 at 2:28 PM
Teresa  (no login)

Dr spoke to my husband and told him this. I haven't called her yet. This does not sound good.
I am sick.
What do I do? She told my husband that she wanted to do one more test he didn't specify what it was...
I was excited at the 1.1 measurement...
Crying and stuck in a meeting for a pt job I just took. I am beside myself in the bathroom.
Help!

 
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Mrs. A
(no login)

DO NOT worry!

July 10 2012, 2:49 PM 

I know you won't believe it and you need to do whatever is going to bring you peace. BUT the NT u/s is so important. Please know that. Yes it is true that it is not definitive but it is an EXTREMELY GOOD indicator.

Btw, did you see Tanya's post below. She had worse odds based on the intial screening. I can assure you her baby is GORGEOUS and HEALTHY and PEFRECT every which way!!!

Have you met with a genetic counselor yet? You need to understand what these numbers mean and also have a clear understanding about how your age affects the numbers. Do you know that when they do these odss they base them on your age at time of DELIVERY - not at time of conception. For me I was basically treated as a 40 year old because I was due one month before my 40th. yet I conceived only 2 months into my 39th b-day.

Speak to a genetic counselor regardless of whatever test your OB wants to run.

 
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Teresa
(no login)

Well

July 10 2012, 3:03 PM 

I just spoke with her. I turn 40 on August 7th. Conceived at 39.8 39.9. She told me based on my age Alone i have 1 in 83 chance She said 1 in 127 isn't glowing report.
Dh and I had lots of genetic testing when we went to our first r e appt. fragile x cystic fibrosis etc. all came back normal. But now she told me to go to a genetic counselor. She gave me the number I called of course no one is there.
Im stuck 150 miles from my husband and. Can't stop crying. We just announced to everyone the other day. Now this dark cloud.
She mentioned the maternal 21 test or whatever it's proper name is.
I am numb. I can't think. I'm stunned.

 
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Mrs. A
(no login)

she should have advsied you

July 10 2012, 3:14 PM 

to go to a genetic counselor FIRST. Personally, having been through this myself, if at all possible I would always advise to see a genetic counselor FIRST before undergoing the NT scan and triple screen. Because you need to have an understanding of how these odds actually work. The blood screen is checking maternal serum levels. And making determination about your baby based on that. The triple screen test can't make any determination about your baby directly though since it's your blood being tested. Hence why CVS and amnio are offered. I don't recall at this moment but you may be getting passed the window of being able to do a CVS - if that is something you'd consider. An amnio may be your only option now. Your OB should have had you see a counselor early on so that you could discss these options with enough notice to proceed. For now, just make that appointment with the counselor a.s.a.p.

I'm not familiar with the test you mention but maybe it's something new. I know I recently saw something on the news about being able to detect Down's as early as 8 weeks. So maybe that's it.

There are women on here younger than you (even odler) with worse odds who have gone on to have healthy babies. Don't let these odds get you down. Think of it this way. These odds say that if there were 127 babies lined up, 1 of them might have Down syndrome. You have 126 "chances" of NOT having a Down baby.

 
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Teresa
(no login)

I am getting a new o b after this I am done

July 10 2012, 4:06 PM 

With what u just told me and the progesterone I feel I am being overlooked and I'm done. The poop has hit the fan. Done!!!!!!!

 
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Laura
(no login)

What is this based on?

July 10 2012, 2:57 PM 

Sorry for that news, it's understandable that you're so anxious, having a hard enough time already.

I remember you said you're turning 40 soon, right? Because the risk of DS for women at 40 is 1/100 anyway, so this result just means your additional blood tests were not super-conclusive. I would put more stock in the NT measurement at this point, since it's physical evidence to the contrary. I think there are additional levels of testing that can be recommended by your OB before you have to decide amnio or not. For now, just take care of yourself the best you can, ok? And congrats on the new job! Hopefully that will ease your financial strain a bit.

http://www.marchofdimes.com/pregnancy/trying_after35.html

 
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jkl
(no login)

don't panic, it's not as bad as it sounds

July 10 2012, 3:22 PM 


I just got my results back a few weeks ago and got 1:209 for DS so I have been freaking a bit and researching. So the weird think is for me, this did not flag as a high risk, which surprised me because I thought it was around 1:300 (I just turned 42). I found a paper where they are finding that as you get older the detection rate goes up but so do false positives. So 1:100 is not as bad if you are older as if you were 25. So I looked at this paper and basically nobody had a ds (in the 40-42 group) child unless their results were below 1:100 (and many in that group did not end up having a ds child). So basically they were recommending droppng the high risk category for older women to below 1:100, which would put you outside that category.

Not sure if this makes any sense to you but I think you should talk to a genetic counselor about it. I can give you the reference to the paper if they haven seen it, or emil it to you. The OBs don't understand it, in my experience. The genetic counselors are very trained in this stuff and also trained to explain it. So obviously this is not the best results but the odds are very much in you favor that your baby won't have ds.

You OB may want you to do the 2nd tri screening. I am leery of that test because it has many false positives, and may just freak you out more.

jkl

 
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jkl
(no login)

the maternal 21 test

July 10 2012, 3:26 PM 


I have heard about this, basically they can detect some fetal cells in your blood so it's completely non-invasive. I don't know how accurate it is but that is something you may want to talk to the genetic counselor about. Let me know if you find more about it. Also, i think it is considered experimental so insurance might not pay for it. GL

jkl

 
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Teresa
(no login)

Will keep I posted but

July 10 2012, 4:04 PM 

Im wortied snd undure as to whether I should do C v s of not
This iPhone is going to be the death of me

 
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Teresa
(no login)

Thank you

July 10 2012, 4:03 PM 

Got appt and m going tomorrow at 8 am. Genetic counselor. I can do cvs tomorrow if I decide but I'm not thinking straight
Why was I given all those blood tests for tris 18 cystic fibrosis etc etc and they came back normal ? What did those good results mean then?
I'm still numb. It's very hard thinking positive at this point. I'm so angry this is happening to me. I hope that's not offensive to anyone we have all been through a lot but this is really hard.
I can't drive home yet I'm in a really bad place. Thinking of booking a room and waking up early to drive home I have the counselor at 8am and I'm sobbing on and off. I'm so scared. Sorry for typo

 
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(Login ekb88)

Please remember what 1:127 is

July 10 2012, 4:21 PM 

It means that there is a 126:127 chance of not having Downs. There was a good NT result and a nasal bone present. Those things are all good. I understand you are upset, but realize you've been told there is a less than .8% chance the baby has Downs. Please don't freak out!

 
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Laura
(no login)

Your genetic panel meant

July 10 2012, 4:43 PM 

That you are not a carrier for any genetic diseases. DS is not a disease, but a chromosomal abnormality, and the most common one at that. But as others have said, the blood screen is not very conclusive, especially for women at higher risk to begin with. It is much more likely that your child won't have DS. These tests are limiting, they can't tell us everything. The fact that your odds came back lower than the odds for someone else your age is a GOOD thing. please focus on that.

 
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jkl
(no login)

yes sleep on it

July 10 2012, 5:44 PM 



you are just in shock. You will feel better in the morning and I think the GC will make you feel a lot better. If you weren't thinking of having CVS before then I'm not sure I would for this result--the maternal 21 test is completely non-invasive and will clear up the down's issue (assuming it's accurate). Yes, cvs will test for a bunch of other things but since you don't really have any red flags from the u/s I don't think I would do it. Depending on doc this can be riskier than amnio, the GC should have the stats for both with the docs available to you. You can also do an early amnio at 14/15 weeks that might be safer. It is not that bad, I had one done at 15 wks for a previous pregnancy (got stats that were 1:7, no chromosomal abnormalities). Take care, let us know what the GC says.

jkl

 
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jkl
(no login)

here is the paper

July 10 2012, 5:51 PM 

Performance of first-trimester combined test for Down
syndrome in different maternal age groups: reason for
adjustments in screening policy?

Melanie A. J. Engels1*, A. C. Heijboer2, Marinus A. Blankenstein2 and John M. G. van Vugt1,3
1Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands
2Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
3Department of Obstetrics and Gynecology, Radboud Nijmegen University Medical Center, Nijmegen, The Netherlands

Objective To evaluate the performance of the first-trimester combined test (FCT) in different maternal age groups and to
discuss whether adjustments in screening policies should be made.
Methods In this retrospective study data (n = 26 274) froma fetal medicine center on FCT (maternal age, fetal NT, free -human
chorionic gonadotrophin, pregnancy-associated plasma protein-A) were studied.
Results 70.6% of cases was women were 94.5% and 4.1%, and 95.8% and 13.0%, respectively (cut-off 1:200). Lowering the cut-off showed an improved balance
in DR and FPR. With increasing maternal age FPR and DR increased and odds of being affected given a positive result
(OAPR) decreased.

Conclusion FCT is effective in women women AMA women is more effective than screening based on maternal age alone. Lowering the cut-off to 1:100 in AMA women is
suggested to improve screening performance. Routinely offering diagnostic testing to AMA women as a screening policy for
the detection of DS seems not reasonable. Copyright © 2011 John Wiley & Sons, Ltd.
KEY WORDS: Down

 
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jkl
(no login)

more info

July 10 2012, 6:04 PM 


here is some info from the paper:

Of these DS cases 110 (90.9%) were
detected at a risk >1:50, eight (6.6%) at a risk 1:50 to
1:99, two (1.7%) at a risk 1:100 to 1:149 and one (0.8%) at
a risk 1:150 to 1:199.

So 90% had a risk greater than 1:50, only 1.7% had a risk at 1:100, and these were in younger women.

Not to freak anyone out but here are the risk categories for women that got good scores:

The six DS cases that were missed
are listed by maternal age (risk result): 29 years (1:2800);
32 years (1:430), 35 years (1:710), 36 years (1:760),
37 years (1:290) and 38 years (1:580)

so you could have a great score but still have a child with down's. But obviously this was very rare and tended to happen for younger women, the test is actually better for older women. They didn't have anyone older than 40 that had ratios great than 1:100 that had a child with down's (100% detection).

jkl

 
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Whitney
(no login)

Re: Bad news 1 in 127 for downs

July 10 2012, 3:37 PM 

There is a new blood test that just came out recently to test for downs and it is a yes or no answer, but some insurance company's will not pay for it. My girl friend had it done when she came back 1 in 50 for downs and I think she said it takes two weeks to get the results.

 
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Sara H
(no login)

First: I am so sorry

July 10 2012, 4:33 PM 

this must be unbelievably stressful. I am so sorry.

Second: You have gotten some great advice here, I hope it's helpful! happy.gif

Third: I would totally go chat with a genetic counselor for all the reasons stated. They can tell you all about different tests and the risks with each one plus how conclusive each one is.

I say, once you get home, talk to your husband about what you need to set your mind at ease, one way or the other. Do you need to KNOW or just have better odds? Every test has a percentile of error and uncertainty. From what they told me the most conclusive is the amnio but it has the greatest risk to it, too.

The other question will be what you would do with the information. If you just want to know so you are prepared and can do what you are able to be ready then you probably are not willing to take on too much risk. If the information could change how you proceed with this pregnancy and your need to know that will mean something else as far as what you are willing to deal with as far as risk.

Either way I'd go talk to the counselor and see what they have to offer as far as information. I think they can help set your mind at rest a bit.

Good luck and we'll be waiting to hear what happens. I know this sounds trite but right now it's only a number. If possible try not to get too worried until you have more info, OK? It's just a chance, not a definite.

Hugs to you,
Sara H.

 
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(Login longing4baby)

Sending you positive thoughts

July 10 2012, 6:00 PM 

Hi Teresa,
You are a strong woman and this is another challenge you are having to face. For that, I am sorry, I wish I could ease your pain. I am glad you have an appointment with the gnetic counselor tomorrow morning. The only advice i can offer on the subject is that I just took the MaterniT21 test last Friday. The nurse told me it was a fairly new test that was lass invasive then CVS or amino and had no risks to my babies. The test covered chromosomes 21, 18 and 13 by checking to see if evidences were in my bloodstream since we all share blood with our babies. The results are in the form of a positive or negative with no false positives. Results are back in 10 days and you can continue with CVS or amino testing at that point. My insurance covered a portion and my responsibility was $235 but the peace of mind was something I felt I needed with my twin pregnancy. I am hoping you find peace tonight and have an informative meeting tomorrow.

 
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Teresa
(no login)

Thank u all sorry I can't reply individually Right now

July 10 2012, 6:33 PM 

Im having a hard time. Can't think, Husband on his way do I font have to be Alone will keep u posted.

 
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Rebekah
(Login Bestbehavior)

Cyber hugs . . .

July 10 2012, 7:36 PM 

I have no experience with this but just wanted to send big cyber (((hugs))).

I do have experience with FIRING an OB practice at 20 weeks. Actually they are just lucky I didn't report them to the county boards. If your OB has not gained your trust or he/she's done way to many things to make you think she's not giving you her undivided attention then definitely right to move on. That is what I did. I polled some local gals, called the new clinic and they had an opening with a renown doctor due to cancellation that very Wed. So I had DH call old clinic and ask for charts and he simply walked in Mon afternoon to pick them up. They called that evening to apologize etc but we had already moved on. The new clinic spent 2 HOURS with us on that first appt. It was already off to a great start!

 
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Bethpky
(no login)

My experience (loss ment.)

July 10 2012, 7:45 PM 

I completely understand how overwhelmed you feel right now. Try to take a deep breath.

Here's my experience: My DS wouldn't cooperate at the NT scan TWICE. I was a complete wreck and couldn't stop obsessing. Then my friend said to me, "Beth, put yourself out of your misery and get an amniocentesis. I had it with my daughter and was so glad to know." I was hesitant because of previous losses...but I knew myself well enough to be sure that I'd never be able to enjoy the rest of the pregnancy without having 99.9% proof that the baby was chromosomally normal. So, I scheduled the amnio...DH went with me, and I took the day off work and had the weekend to rest. Early FISH results showed a chromosomally normal boy; confirmed with final test results. I went in for my 20 week ultrasound about 4 weeks later and the baby actually had a soft marker for Downs Syndrome. Of course, we knew he didn't have Downs. But can you imagine the additional worry if I didn't already have the amnio results?

I'm absolutely NOT telling you what you should do. But I know that for me with my anxiety issues, I had to KNOW so that I could enjoy the rest of the pregnancy.

Your odds are not bad, by the way.

Good luck whatever you decide.

 
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Jamie
(no login)

hang in there; this happened to me

July 10 2012, 7:57 PM 

I was 39 and told that I had a 1 in 186 chance and that was a red flag. I too had a small nuchal measurement so had thought that things were fine. All turned out to be well; just have them do them in-depth ultrasound at 16 weeks. Once they looked at my daughter and saw that she had no soft markers they revised the score to 1 in 250. At that point I decided that since there was only a .4% chance of her having a problem that I was going to not worry. She was born healthy.

I found a Danish study showing that IVF pregnancies often give these false positives because our progesterone supplements skews the results. I'll be if you google you can find it. It said that the nuchal measurement is the best measure because of this.

Please hang in there . . there is a less than 1% chance that you are facing DS.

Hugs.

 
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smrc
(no login)

this seems like such good advice

July 10 2012, 10:51 PM 

hang in there Teresa - deep breaths and get through that appointment with the genetic counsellor tomorrow morning and go from there. Keep us posted on what happens. SMRC

 
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Teresa
(no login)

****important question about progesterone skewing results

July 10 2012, 11:46 PM 

Midnight..... can't sleep. Migraine and so anxious
I take endometrin which doesn't show in blood so would this exclude me as far as that Danish study?
God I hope that may have something to do with it. Thank you for replying

 
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Jamie
(no login)

all the artificial hormones skew this

July 12 2012, 4:30 AM 

I don't know how it works, but the Danish study showed that IVF truly messes with these results and it doesn't matter what support you are taking . . . because the test is measuring not P4 itself but HCG and one other thing I can't remember. HANG in there, chances are that all is well! I had to do the genetic counselor thing too and they tend to be unaware of this study in the U.S. (my OB was unaware also).

 
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Teresa
(no login)

I didn't do ivf, also asked about this with genetic counselor

July 12 2012, 5:13 AM 

Just on endometrin ... Which isn't measured in a blood test.
I think what's making me most nervous is my risk for trisomys came back soooo good, 1 in 2981. But the downs came back 1 in127, such a difference.
Thank you for the information. I did ask the genetic counselor yesterday about progrsterone skewing results she told me she never heard of this but I did read about it a lot online. They don't know it all, do they?
Hoping for good results. Ten days. So hard
Thanks again

 
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Jamie
(no login)

they absolutely don't know it all

July 12 2012, 3:54 PM 

Sorry, I remember now that you are not IVF. Well, just by taking artificial P4 you can throw off your results. Hang in there! The way you can think about it is this . . . if someone asked you if you wanted to be pregnant right now and you had a 129/130 chance of a healthy baby, you'd take it, right? I know that I certainly would have, and unfortunately these tests tend to freak us out instead.

 
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Funintheskies
(no login)

This is just a quick note

July 10 2012, 7:57 PM 

to let you know I'm pulling for you... I wish I had something better to offer... Praying for miracles!

 
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Lea
(Login hope455)

((((((((Teresa)))))))))

July 10 2012, 8:27 PM 

You have 126 in 127 chance that everything is fine without any problems. That 99.2% chance that everything is normal.

I know the numbers are hard to hear and comprehend... All you hear is that there is a elevated risk. I also know that it is impossible not to freak out, but it honestly doesn't do any good -- it only stresses you out an d makes you miserable since there isn't anything you can do.

A risk assessment is NOT a diagnosis. It's simply a statistical analysis of your "risk". It only means that if 127 other women have the exact same screening results that you do, only one of you with have an abnormality. The rest of the group, just worries for no reason.

Sending you big hugs,
LEA XOXO

 
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jkl
(no login)

yes

July 10 2012, 9:38 PM 


and that is just theoretical risk--that actual numbers from above show different risks, so it was actually much less than 1:127 from that study for older women.

 
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juliemam
(Login juliemam)

worries

July 10 2012, 11:04 PM 

they never end. sad.gif Sorry you are going through this.

Hang in there, you got some great and encouraging advice. happy.gif

will look for your update, thinking of you,
hugs
jm

 
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mel
(Login melwr)

Teresa (child ment)

July 10 2012, 11:26 PM 

While I know this news is shocking and devastating, please try not to put too much stock into this number, as difficult as it may seem. Age plays a huge factor in determining this number, and this blood test has such a high rate of false positives.

When I was pregnant with my daughter four years ago (at age 33) my result came back at 1 in 105. Like you, I was in shock, devastated and couldn't believe this was happening to me after already suffering one loss (at that time.) This was before my IF diagnosis and I knew absolutely nothing at all...I was in ignorant bliss, I guess you could say, until this news came along. I learned though that this test has high false positives and causes needless worrying. This is not a diagnostic test, but a screening and it is really important to remember that. You had a really good measurement, which should go a lot farther than the blood test, in actuality.

There are really no words that are going to make you feel better no matter what other people's experience with this may have been, but hopefully it will help somewhat. I've been there before and it's really hard not to focus on this number, but it is not diagnostic. In the end, for my peace of mind for the rest of my pregnancy, I needed to have conclusive results, so I opted for an amnio. I was scared out of my mind for that procedure, but knew it was what I needed to do to move forward. The risk of the amnio at my OB's practice was well over 1 in 1,000, which far outweighed the other risk, so after talking with a genetic counselor, that was what we opted to do. Needless to say, there was nothing wrong with my daughter and that 1 in 105 number was meaningless and caused weeks of endless torment and worrying for no reason at all.

I hope you get some good information from the genetic counselor tomorrow to help you process this. Sending you hugs!


 
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Teresa
(no login)

I hope the same will be the case for me

July 11 2012, 7:00 AM 

Getting ready to leave for genetic counselor, never slept last night and keep crying. My head feels like it Got snashed with a bat sorty For typos Still not at computer
It's impossible to not think the worst.
Thanks to all for your caring replies and sharing experiences. Will try to post later. Definitely want that maternit21 test. C v s not so sure if they will Do it given 13 weeks 2 days now
My dr said yes but i no longer take stock in anything she says and I'm not going back to her. Sad that I liked her so much at one point.
Maybe will have the amino. I am a basketcase all the time so this may be what i need to do i have no idea financially what having a child with ds means. Dh are not rich and we have zero family support, so sad. Its hard not to think about the worst happening. We are 40 and there are many concerns. Maybe im also being selfish snd thinking how this could dradtically affect our lives if thete is severe retardation my mind cant help not ho there At the same time I don't think I would be able to live with myself to terminate. I keep thinking all the miscarriages I have had and never on progesterone. Did the progesterone I'm on now keep this (potentially ) abnormal baby Alive? My head is spinning and not thinking clearly. Im just angry right now. Maybe some will think I have no reason to be but I am. Weve been through so much and now this. Im Praying For a miracle... Bargaining with god I know prople say 1 in 127 is not bad but How do u not freak???????Never again either way. life can be turned upside down in a second!

 
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Meg
(Login NateDog03)

Just sending hugs...

July 11 2012, 10:50 AM 

and hoping for the best. I tell you, the anxiety of early pregnancy what with the fear of loss and these horrible screens makes it zero fun, IMO.

Just try to remember that it's only a screen at this point, not a test result. SO many things can skew it. I agree with what you say about life changing in a second; I know it from experience. But remember, odds are in your favor that things will be OK. It sucks, though, that any of us be put through any additional stress after everything it took for us to get here.

Hang in there and keep us posted.

Hugs,
Meg

 
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Funintheskies
(Login Funintheskies)

Also sending hugss... (nt)

July 11 2012, 11:45 AM 


 
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Laura
(no login)

Sorry about your rough night

July 11 2012, 12:54 PM 

I was taking p4 when I got pg in jan, and my abnormal twins did not survive. My understanding with p4 is that it only prevents a viable pregnancy from ending due to a p4 drop (this is how AF starts at the end of a cycle). It doesn't keep an unviable pregnancy from ending, although it may delay bleeding. A DS fetus is a viable pregnancy in most cases, and the children usually have a relatively good quality of life. All that being said I still think your odds are good (99.2% that all is fine). I hope you have a good mtg.

 
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ZakiaZ
(no login)

There was someone on here...

July 11 2012, 11:05 AM 

who had a 50/50 chance (one in two) odds. She posted when I posted about my results which were 1/200. I was freaking out until her post. Her baby was fine and so was mine.

These numbers can be very upsetting so I understand your concerns but somehow I think your baby is fine.

So sorry you're going through this.
Z.

 
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(Login darrias)

Hey Z

July 14 2012, 5:15 AM 

Im baaaack.. Ill send you an email.

Darrias!!!

 
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ZakiaZ
(no login)

Will check email soon :)

July 18 2012, 8:50 AM 


 
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