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Amniocentesis

My wife is 39 & currently 14w2d, yesterday we finally got our 1st trimester screening results.

I new she would be high risk just based on age, but we were still hoping for the best.

Her age group risk is 1 in 50, our test came back 1 in 55 for trisomy 18 (DS).

We were both quite stunned and almost in tears.
However, when we got home I did some math & if I take the positive view we have a 98.2% chance of a healthy baby. The risk only being 1.8%.
They are pretty good odds & are somewhat comforting.

Although amniocentesis will give us a difinitive answer, we are both quite anxious about having the test.

I realize that amniocentesis will only add an increased risk of 0.5% to a background miscarriage rate of 2-3% but it's still quite scary to think that we could lose our baby from it.

Has anyone else had this test, what was your experience.
Are we worrying about nothing?
14 Responses
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Avatar universal
I did the materniT-21 instead since the results are like 99% accurate.  Can you guys do that?
Anyway, it all just depends on what you'd do with the information once you had it. If the end result is the same either way then I'd skip it.
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Avatar universal
I did the amniocentesis... Doctor went straight for that .. I was told trisomy 18 also. Scared me to death... It cane back negative ... I pray for you... I know how scary it is. Smh I didn't want the amnio but I didn't know what else to do. There are risk...but I came out fine. Prayers
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Avatar universal
My early screening came up positive for down syndrome and my baby came out normal. I'd be more worried about a miscarriage if you do it. If you are gonna keep the baby no matter what the out come then you really don't need it. Put it in God's hands. I didn't even want any of the test for that after and I've had well it will be five children soon. I'm 37 and everyone has been healthy. Don't do it cause of statistics cause a lot more is at factor then just age.
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Avatar universal
Yeah, sorry I meant Trisomy 21.
Her risk for Trisomy 18 & 13 are virtually zero.

Statistically the risks are very low but its still obviously nerve wracking.
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Avatar universal
Agree with all the ladies, i'm not doing it. Wouldnt so it if i was you.
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Avatar universal
Also, talking to my brother's wife, she was given a 1:5 chance of having a baby with trisomy chromosomes.  She was petrified and had the amnio which was fine (as you say 80% chance it would be).  They too were not sure what to do with the result.  I'd suggest gather the information, then if you find out DS is on the cards talk to a parent with a child with this to find out the real life difficulties and pleasures.
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Avatar universal
Hi there, trisomy 18 is Edwards syndrome, not Down syndrome so I would clarify with your ob which one they are concerned about.  They are very different entities as survival in a baby with trisomy 18 is low and they often have horrible health problems (heart, kidneys etc).
Down syndrome children can vary from minor disability and no health problems to some with more problems but generally they survive birth and into adulthood and many fit very well into family life.  
My plan (and this is personal of course) would be to have as much non invasive screening as possible (the new blood tests and ultrasound).  If it really is trisomy 18 the risk was for and the bloods didn't reduce this I would want an amnio to know and if it was Down syndrome risk I am not sure if I would do the amnio.  My husband disagrees with me as he is older (50) and couldn't cope with having a DS child who potentially never became independent of us when he himself is retired and old.  I can understand this perspective but it is jolly hard when your child is growing inside you and it's a real decision.
I hope you find all the info you need and can work out what's right for you.
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Avatar universal
I refused all test, but my ob/gyn done my quad screen anyways. I was very unhappy about them not even asking me how I felt about it. I'm 35 years old and I refused the amino. Now my high risk doctor is suggesting the cell free dna. It's a simple blood test. There is no harmful side affects like the amnio. I would ask about that one as well. I'm still not sure if I'm going to get it or even go back to my high risk doctor. Doctors are NOT GOD!! Oh, my quad screen came back positive for the Down Syndrome. I'm not claiming that at all. Plus it's just a 5% chance. I'm putting all my trust in God!!
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Avatar universal
That's exactly why I opted not to have the tests done.  It's all really just a numbers game and I don't want to put myself thru the stress of what if. Although, we all want to have a healthy baby with no issues, I believe babies with DS are angels and I would be blessed if my baby had it. He/she would be loved the same..
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Avatar universal
When they tell me maybe i have a ds baby , they asking me if i want to do the amnio , but really is that so important to do it , go through that stress not just for you , think in your wife she is the one who go through the pain. I always said God have the last word i keeping Faith in my situation. My ultrasound looks good and the next test come negative but you never know after the baby born . Good luck.
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8594632 tn?1410183693
My first blood work came back a faulse positive. I had a bigger blood work test done & better ultrasound & he is fine. I said no to the amino
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Avatar universal
I have had this done i was farther along that your wife but. It is excursiating. Your not allowd to move bc you don't want to hurt your baby. It took my mom four nurses and a dr to keep me still it was god awful pain and I had all three of my kids with out epidural. Unless you plan to terminate the pregancy due to ds which I hope you wouldn't its not worth the pain and risk to the baby . This is just my opinion and its best to do what is best for you.
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Avatar universal
With my last pregnancy I had the option for the amino but first the did a more in depth ultrasound to see if the baby had any markers for ds. Once they gave the all clear on the ultrasound i opted out of the amino. This pregnancy I opted not to do the test in the beginning because I will accept what ever is meant to be. All of my ultrasounds have been fine.
Helpful - 0
Avatar universal
I am 39 and 25 weeks and am not having the test because it so want matter to me if it has DS or not I'll love it the same (not saying u wouldn't) but my doc said they do this test in case women want to abort if they find out the baby has DS I don't trust the amnio but I also haven't ever had one
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