Down's risk

[Annabanna524]

Hi everyone - a quick question... I'm 41 and after multiple miscarriages my husband and I have naturally conceived.  Everything seems to be going well. except at our 12 week ultra sound the baby's NT was 2.3 ( the Dr said that is 'high normal" and at our 16 week ultra sound they think they found an EFI (white spot on the baby's heat - which some Dr''s think COULD be linked to an increased risk of Downs.  We did not elect to get the bllod work done because the false positive rate goes sky high as you hit 40.  Our genetics counselor doesn't seem too concerned she said our risk is about 1% of Downs (normal for a 41 year old woman).  We know the Dr's are itching to do an amnio and we've said NO - we'd keep the baby no matter what, they seem to trying to 'scare' us into it - advice?  How bad is a 2.3 NT?  Anyone else have an EFI?  Thanks

[martikadragoon]

My 2nd son had an Echogenic Focus on his heart (a soft marker for down syndrome) and was born typical.

My first son however was born with down syndrome when I was 21. he's 19 months old now and his little brother is 3 months old. I'm bumping a thread I created for you,

But to give my input, a fold of 2.3 is VERY good!  Pertykitty is right that a higher fold (usually above 4 or so) is a higher indication of DS.

Your %1 is actually odds. I now have a %1 with EVERY SINGLE pregnancy I ever have due to my first son being born with DS>

Have them do more U/S's and checks of babies heart and measurements and that'll give you more of an indicator if baby has any chromosome issues but it sounds like your alright and so is your LO.

[msacha]

All I have to say here is: AMEN!  Docs can be such pessimists.  Enjoy!

[pertykitty]

i say dont worry, your results sound good to me.  a fold of 2.3 is very much within normal limits.  my fold results were 5.4 (my baby girl does have down syndrome).

try to relax and enjoy your pg, these tests are just little touches of could be and your 1:85 are extemly great odds!! i was 1:3

[Courtcoop]

I had a really bad NT scan and bloodwork, spots on intestines, nuchal fold was bad, small nasal bone, short femurs, etc.... my risk was 50% (1:2). DR kept saying "I am so sorry to tell you this, BUT these are all signs of..."

I opted for amnio and does not have any chromosonal issues, I am now 32 weeks. Since then the spots are gone, he has a cute button nose, he will be a short kid (mom and dad are short) and the worset case is that he has some fluid in one of his lungs from a lymphatic issue which is easily resolved after birth.

DR's like the hype and they all scare you into wanting an amnio so they can cover their azz.

I have heard nothign but negative results from all my tests, all have turned out fine.

Next time (IF a next time) I will not proceed all this drama and bs and will opt out on "tests" as it became ridiculous.

Take it all with a grain of salt, sweetie.

[KarenDiane]

This is baby #4 for us and with each one I've said no to the Down's testing. I know it might be helpful to know ahead of time, but there is never a chance that I wouldn't keep a Downs baby so I don't see the need for the extra stress.

[NZmum3]

Congrats on your pregnancy....Well done.I bet you and your husband are really wrapped.I had two miscarriages last year and now 14 weeks PG and I'm nearly 45yrs.
We only got our results for nuchal scan today and measurements for us where 1.3mm and based only on nuchal scan not bloods I have risk of 1:85 for DS.
My doctor said that anything under 3.0mm is fine.
But they still take our ages etc.. into consideration of course.
Sorry I couldn't be more helpful but I'll be keeping an eye on your post as I was going to be asking similar questions to all the wonderful ladies on here.
Good luck and I'm sure your wee baby will be just fine.
Erina