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Genetic Testing in second trismester
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Genetic Testing in second trismester

The nurse just called me about the genectic test result 1:51 for down syndrome risk on my second trismester blood work.  She suggested me to have animo test which I don't want to have it.  Should I concern on this result.  I'm 39.
Thanks for your input.
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22 Comments Post a Comment
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233562_tn?1282771982
Im not sure what the chances are with that result, I do know that your age does put you at high risk for down syndrome though. My test came back 1:24000 and my doc said there was nothing to worry about but Im also only 24. Of course that is far from your number so I think that I would take the advice of your doc and have the amnio just to be safe. I know that is horrifying to think about but I would rather be prepared for a downs baby versus not being ready. Sorry I can't be more help.
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Avatar_f_tn
I am sorry you are going thru this.  Although I have not ever had a baby I would go for the amnio.  I think it would make things more comfortable for you thru the rest of your pregnancy knowing that everything is ok.
Keep me posted.... Best Wishes to you!!
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715068_tn?1392937132
I just received my results today too, our results were 1 in 3 for Downs Syndrome.  I am having my amnio done on the 22 of this month.  
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1173196_tn?1292920090
I think it's a very personal decision. I have never opted for the blood work even though I am 35 with this pregnancy. And if suggested, I would turn down an amnio as well.
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715068_tn?1392937132
I agree that it's a personal decision.  For us, we wanted to know so that we could prepare ourselves mentally & speak with our children in advance.  We will also have the rest of the pregnancy more closely monitored & our dr said we would have more u/s to check for other complications related to downs.  It is not an easy choice & I am terrified to actually have the amnio done.... I am a big chicken.  But personally, I would need the time to wrap my brain around this.
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919335_tn?1309122262
Did you all not do the u/s when you were 12 weeks? The u/s at that appt could've pinpointed downs syndrome by 80-90%. That's how high the u/s odds were for detecting downs as well as neural tube defects. The u/s is a nuchal translucency. It measures the fluid at the back of the babies neck as well as the nasal bone thickness.

The genetic screenings come back with an excessively high false positive rates. I think these rates are 50-65%, if not a bit higher, for false positives.  You have a better chance finding downs in an u/s than you do the screenings.

They have quite a ways to go yet for the blood screenings to accurately use them. This screening started only in 1995, so it's still relatively new to the medical world.

These high false positive rates are the reason I didn't want to do these tests, as I didn't want to worry myself to death. Besides, the ultrasonographer and the perinatologist said the baby was in excellent shape and didn't see any downs or
defects.

Good luck you guys.. I'm sure there's nothing to worry about...

Lisa
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Avatar_f_tn
Whether you should do an amnio or not depends your answer to two questions, in my opinion:

1. Would you terminate the pregnancy if you discovered that your baby would have Down's? (if yes, then I'd say definitely do the amnio - if no, then read on)

2. Will not knowing whether your baby has Down's make the rest of your pregnancy very stressful for you (or the baby's dad) if you decide against the test? (if yes, then I'd say seriously consider doing the test... although there is the risk of miscarriage, so you have to weigh that, too)

I'd say that if your answers to both questions are "no", then don't do the test.

Personally, I opted to do the other sort of invasive genetic testing (CVS test) because I knew that my answer to question #1 was at least a possible "yes" and that test can be done earlier than the amnio. I'm very healthy, but I'm 37 years old, and the risks do go up quickly after age 35 or thereabouts. I didn't miscarry, and we got the result that our baby has all the right chromosomes when I was only 14 weeks pregnant. So for me, it was a good experience and the right decision. But of course, not everyone has a good experience and everyone has to make their own choices. I just thought I'd share mine.
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715068_tn?1392937132
I did have the u/s at 12 weeks (nt scan), I also had the early screening done at 11 weeks.  With those 2 tests my odds were 1 in 350 for downs.
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964234_tn?1331952807
Hi Ladies,
I did not do any first trimester screening at all.  I figured it would worry me more than anything else, and my insurance didn't cover it.  But, after hearing all of these stories on MedHelp and in real life I decided to fork out the cash out of pocket and have the 2nd trimester screening done last week.  Still waiting on results.
To all of you worrying right now I am so sorry you are going through this.  If my odds are high that my baby does have a good chance of having downs I will take necessary measures to find out more as well.  But, I do not think it would change anything for me at this point.  Also, just because the you have a higher chance of your child being born with this doesn't necessarily mean that it will.  All of you ladies and your babies are in my prayers!
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Avatar_f_tn
I'm really appreciated your inputs.
It took me more than 4 years with 1 MC and 1 etopic this year.  This is my 5th IVF, and I'm 39, I don't see to have any chance to get PG again, so I decide not to take any futher tests.  I don't have NT scan because of baby's position and we could not measure the baby's neck.  First screening test is OK, but the second one is 1:51.  Does it mean 2% of high risk DS?  If I have amnio test the risk of MC will be 1%.  That is what I really concern because the percentage is about the same.  I only stress because my DH is telling every day taking amnio test even I have not tell him this result.  He would not accept the DS baby.  I'll love my baby no matter what and really positive about my baby who should be very healthy
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1173196_tn?1292920090
I should add also that my daughter is autistic so a special needs baby doesn't make a difference to me.
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1012334_tn?1283706579
I am getting my genetic screening done tomorrow, I have never tested high for anything with my other pregnancies, so I don't know if I would change my mind, but at this point even if the test came back as having a high risk for something, I personnally would choose not ot have an amnio done, even if the baby had something I would not terminate the baby and I would not want to chance a MC, having my water break or an infection. I already have a history of preterm labor and would not want ot add to the complications. that being said I do not think that an amnio is always wrong just not for me! if you think it will give you a less stressful pregnancy than the stress might be worse for the baby than the test! Good luck and my thoughts a prayers are with you! my mother was 36 when she had my little brother and they told her based on the testing that she had a 80-90% chance of him having downs syndrome, she did'nt have the amnio and he was born perfectly healthy!
babywanted556- if you have a 1:51 chance that means out of 51 women one of you will have a baby with downs and 50 will have healthy babies!
queenspade- my thoughts a prayers are with you good luck on the test!  
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Avatar_f_tn
Sorry for this hard time, it must be stressful.  It's just so hard to predict like others have mentioned here.

I was wondering about what you wrote, in regards to DH "He would not accept the DS baby. " in your second post.  Does that mean *if* you had that result, you would terminate? Or that he would have a hard time accepting a DS child after it was born?  *If* it was after the birth, I'm sure he would love it too like you would. I think a DS or any child would be beautiful. "Special" children are that - special. That's a nice thing as well. In fact, even though there are challenges, I've read wonderful things about DS children.  I just want you to follow your heart!

To your original question, don't do the amnio if you are against it, but do it if you think it could help you.  
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Avatar_f_tn
My DH wants me to do amnio test, not me.  He would like to terminate PG if the test is positive.  I have an US on last friday and high risk doctor did not see any sign of DS but she could not detect stomach bubble.  I'm going to return in 2 weeks to have another US.  I decide not to have amnio test and keep my little boy no matter what.
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Avatar_f_tn
The risks are what it says - risks. If you do not have any markers during the scan itself , I think its less possible for a DS baby.

In any case I think its wonderful that you are keeping your boy no matter what - I hope your scan in 2 weeks shows nothing to worry about. HUGs
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1173196_tn?1292920090
I want to say that I think you've made the right decision reguarding keeping your baby no matter the outcome. It must be very hard without the full support of your DH. Good Luck at your next u/s.
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Avatar_f_tn
I feel so weird that I have no worry about DS or stomach bubble yet.  I'm very positive about my baby's health.  I wait for him so long, now he just come to me.  He should be fine and I love him to death.  Thanks so much for your supports, ladies.
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Avatar_f_tn
I am just recovering from an amnio that I had on wednesday.
All went well but each day when I wake up I hope I make it through the day without having a MC.
I had two MC last year and wouldn't want that to happen to this little one,because too I'm just over 16 weeks PG.
I was very afraid to have the amnio done but because of my age (45 yrs in a couple of weeks)  and also my risk of DS went from 1:85 based on NT scan up to 1:60 with the blood tests.I decided to do it for peace of mind.
Be positive and go with your heart feelings....
I know our baby is just fine as well but had my doctors telling me that I really should have the amnio.
We are waiting for the results to come back now.
You will be fine.Please let us know how you are going.
Big ((HUGS)) for you,I know how you must be feeling.
Take Care,no stress,   Erina :)

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Avatar_f_tn
I'm so happy to know that your result is back.  Congratulations again......enjoy your PG.  Time to shop for PINK stuffs.  Take care.
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Avatar_f_tn
Thanks for your kindness.
I was afraid having the amnio,but so pleased to get some of the results back so quickly (3 days).
No DS and yes a baby girl.
I'm sleeping well now as knowing  that everything is ok so far.
Thanks Erina :)
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1139097_tn?1271198037
Chances of miscarriage with Amnio is more like 0.5%.  Where you read 1% is based on older data.  Procedures, techniques, and doctors doing them are more specialized these days.  My regular OBGYN says she does them, but I will be going to a specialist next month.  I am 38 and opted to skip the screenings and NT.  Seems it would have been stressful just knowing the risks.  I want to know for sure.  I almost had CVS (with more like a 1% chance of MC) but since my specialist would not do FISH (fast testing, with quick results with CVS) there would have been only a two week difference and getting the results between CVS and Amnio.  Personally, I don't feel there us anything for me to worry about, despite my age, but I still want to know for sure.  I pray all goes well and then I can enjoy this pregnancy even more than I currently am.

Also personally, if hubby wanted Amnio (which I don't have a hubby), I would have the Amnio.  Think of his peace of mind as well for the remaining months.  

I think age alone really jack up the risk numbers.  For other older moms to be, if you know you won't terminate and if you know you don't want CVS or Amnio to clarify any a high risk number,  I say skip the screenings also!  

I stressed myself out just thinking about and reading about it all in the beginning.
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1119529_tn?1287028302
Hi I am not sure on my results although my doc did say they were great so i will post them here and see what you all think of them i would be greatful for any responces good or bad.

the nuchal translucency measures 1.3mm foetus with a crown-rump length of 46mm in keeping with a gestational age of 11 wks & 3 days cardiac activity is present at a rate of 148 bpm, the nasal bone is identified.
the adjusted risk of trisomy 21 is 1:11,190
the adjusted risk of trisomy 13 + 18 is 1:18,944

So how does this look to you all? I was 10wks and 5 days when the scan was done, so going by these results i may be a week further along is that right?
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