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Avatar universal

it feels like a death sentence ...

Last week got the nuchal translucency scan done. It was bad. 5 mm and some swelling over the chest and back. Doc said 50% chance of trisomy 18 30% turners and 20% downs or trisomy 13. Then this week got back the Maternit21 labs. It's trisomy 18.  Neither are a diagnostic tool just screens but combined odds are over 95% certain for trisomy 18.  It's hell. I love her already.  I want her healthy and whole.  

There is a good chance of miscarriage.  And if she is born a low chance of survival to a year or older. I just can't take any more.

She is my rainbow baby. I lost Bean in Sept. Now this. Only way to know 100% it's trisomy 18 is amniocentesis and the risk of miscarriage and the tiny % chance she is fine and if she is and I do the amniocentesis and she does I will be crushed worse. I have 2 weeks to decide on the amniocentesis then I will go back to fetal medicine doctor.  I am at a loss here and it *****.
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Avatar universal
I am so sorry you are going through this...you are in my prayers.  I know before I did the test they said  there is a chance of false positives.  If it was me I would do the amnio so I could have time to prepare myself. I am not proamnio however this is a situation where I would use the tests available. ...please keep us posted.
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13167 tn?1327194124
If this helps, bertie,  I think you're doing the math a little wrong.

MaterniT21 labs refuse to publish their rate of "false positives".  So while they say they catch 95% of Trisomy 18 babies,  and return a positive in cases where the mother is carrying a Trisomy 18 baby,  they don't tell you how many mothers also got the positive who went on to have healthy babies.  They're kind of playing fast and loose with statistics.

It's true that if you have an abnormality and get the test,  their results are overwhelmingly likely to show "positive".  But how many others get snared in that positive that are healthy?  They refuse to tell.

Prayers for you,  for peace and wisdom.  This must be incredibly difficult.
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Avatar universal
Because  of my age as per my doctor  he recommended  amnio, I totally  refused I had a miscarriage  last year and this is my miracle baby .
My husband and I being trying  for nearly 10 years .
So when  they recommended  the amnio I refused and just did the Harmony Test of course I already  said it that I do not care what the results are I will keep my baby , but Thank The Lord everything  cameback negative so I am hoping  once born he will be healthy and happy .
I will pray for you and your baby girl and I  hope all will workout.
Also remember  that they are still miracles on this earth and your baby girl  may just be that.
Lots of love be strong .
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Avatar universal
FYI: amnios are not as bad as some women make them seem. The miscarriage rate is extremely low, depends on your doctors skill. I've had an amnio in 3 of my pregnancies and they do not hurt. They numb your skin prior to insisting the needle. No pain, just pressure. I've had Pap tests that were more uncomfortable.
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Avatar universal
I'm so sorry, I know the turmoil you are experiencing. I had the Harmony dna test at 12 weeks. It said over 99% possitive for an extra chromosome. I cried daily. I had to wait until 16 weeks for an amnio. The amnio came back negative. Since the amnio I feel so much better and try not to worry. I'm due in less than 3 weeks and will finally get an answer then as to which test
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Avatar universal
I am having same test done in few days and i stress as well. I've decided on what to do if i know for sure that my baby is sick. But as to your concerns, i agree with previous comment, sometimes things go bad and you loose a baby for a reason. Your next one hopefully will be healthy. Mother nature is pretty amazing. Think about it, if you end up with unhealthy baby, what kind of life will she have? Will you be able to give her everything, or will she suffer isolation and social rejection. No matter how much we love our children, the world out there is pretty tough place.
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Avatar universal
I am so sorry to hear this. 8 wish there were something I cld say to u to bring u comfort and ease ur mind, but I know its not that simple. Just remember that everything happens for a reason. And if ur time with her may be limited, then u show her a love surpassed by none other!! Enjoy every second. Find comfort in knowing u have her for the time u do. Its an amazing blessing from God to b blessed with a child. But we r all here temporarily. I'll pray for the best possible outcome for u. U and ur babygirl will b in my thoughts and prayers!!
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