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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
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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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ekb88
(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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Marti
(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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