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Original poster

1:124 risk of downs

10 replies

MercyMe · 02/08/2011 21:31

I received my results from combined test which was 1:124. At 12 week scan they were unable to check nuchal due to introverted womb. Big shock, but we have decided to go ahead with amnio which will be on Thursday. Just wondering what we should expect at this? I am rhesus negative so not sure if that increases risk of miscarriage?

OP posts:
PacificDogwood · 02/08/2011 21:37

Sorry to hear you are going through this.

1:124 risk of Down's is also a 123:124 chance of a healthy baby, mind Smile.

Being Rhesus neg will not increase your risk of miscarriage, but as you might get sensitised (if this is your first pregnancy, yes?) you will be offered Anti-D injection to prevent problems in subsequent pregnancies.

FWIW, I had 3x CVS and 1x amnio and the amniocentesis is by far the less uncomfortable test - really feels like having blood taken. It is done under ultrasound guidance and takes no time at all. Really, the actual procedure is not bad IME - the waiting for the result however....

My Down's risk was 1:18 btw and risk for Patau 1:4 - I have 4 healthy DSs Smile. I know I have been very very fortunate.
Hope the same will go for you. Good luck on Thursday!

Original poster
MercyMe · 03/08/2011 10:45

Thank you for your reply.

This is my 2nd pregnancy, my dd was born with a congenital non genetic condition which wasn't discovered until birth. The shock of this was awful so I really need to know what is happening with this baby. My dd condition has some links to trisonomy 18 but not sure how relevant this is. I may ask for some genetic testing.

After all the difficulties with dd I had really hoped that this pregnancy would be problem free, still in shock about it all.

OP posts:
PacificDogwood · 03/08/2011 20:23

Oh, MercyMe, no wonder you are worried. I hope your DD is doing well.

After my first 3 pregnancies ended in early MMCs both my DH and I had lots of tests done, amongst other genetic testing (karyotyping). It turned out that I carried a genetic problem which predisposed us to 'making' babies with Trisomie 13 or 14 (Patau).
Apart from the first loss, fetal tissue from each MC (I had a 4th one between DS2 and 3) were tested, all had something wrong with them, but none of them had Trisomie 13 or 14. Confused. Nature can be a right old bitch sometimes.

Try and don't get too far ahead of yourself (easier said than done, I know): I hope your amnio goes well and you get result we all hope for. Can your hospital offer 'direct testing' which allows for a preliminary result quicker than the subsequent culture? It just puts you out of your misery sooner.
If, and I am saying if, you sadly had a worrying result, then consider being tested yourself. And your DH as well of course.

I am keeping everything crossed for you Smile.

Original poster
MercyMe · 04/08/2011 11:27

Thanks for your message. I am so sorry to hear about your losses, it must have been devastating.

My dd is almost 3 and doing well, she had most things repaired during her first year. I will ask about genetic testing although I think this will be my last pregnancy no matter what the outcome is, I can't go through this stress again. Just heading to amnio, hopefully it'll be fine.

Thanks again.

OP posts:
PacificDogwood · 04/08/2011 12:57

Thinking of you today, MercyMe.

Original poster
MercyMe · 05/08/2011 21:56

Had amnio yesterday, feeling fine. Didnt really hurt, but was uncomfortable. The scan looked good, heart was fine, couldn't see nasal bone as baby had turned it's head. Really hoping for good news on Tuesday, this is going to be such a long weekend.

OP posts:
PacificDogwood · 05/08/2011 22:02

Glad to hear it went ok.

Rest up, eat chocolate, watch trash TV or whatever helps you kill time.

Maybe I shouldn't really tell you that we flew off to attend a wedding abroad less than 24 hours after my first CVS at 10 weeks Grin? At that point I was so fed up with having done everything 'right' in the 3 previous pregnancies, yet still losing them all, that my frame of mind was 'Sod it, it will either stick, or it won't'.

DS1 is now 8 Smile.

Oh, and I had to out myself at said wedding because somebody spotted that I was not drinking....

PacificDogwood · 09/08/2011 16:27

Thinking of you. Hope you had good news. x

Original poster
MercyMe · 10/08/2011 08:15

Hi Pacific

We got our results yesterday, and they came back fine! What a relief, was so terrified! Full results in 10 days but nothing is expected to come back with them.

Thank you for you support, and for sharing your experience with me.

OP posts:
PacificDogwood · 10/08/2011 08:24
Smile

Great news! Good luck with the rest of your pregnany.

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