I suppose the other thing is she has an amnio and then what? A friend from Mothers Group had much, much lower numbers than that and elected not to have the amnio. Her view was that she was keeping the baby, downs or no downs. Her daughter was born with downs syndrome and she is the most beautiful girl I know.
I second all the calls for a new doctor. Those numbers are nothing to panic about.
if it was 1 in 50 then yeh id say go the amnio, but 1 in 300 is only a small chance.
Would the results of the amnio make your sister change her mind about the pregnancy (i know thats a horrible question, but one that needs to be asked) if the answer is no, then i definetly wouldnt get it done, and at the 20 week scan there'll be markers for downs should the baby have it, and if it does, she can reseaarch all she's going to need to know about the syndrome, and if there are no markers, then she can continue till 40 odd weeks without having to worry.
Google search Kellie hamptons blog, she had a DS bub and didnt know beforehand, its a very heartwarming blog about her beautiful little girl
I'm 41 and was told at my scan that unless my odds were worse than 1:150 they wouldn't even consider an amnio. My base odds before bloods and scan (so purely on age) was 1:59. I know it goes up dramatically with age when you get to be an old duck, I would have thought 1:300 was still a huge improvement on her base. Hugs to your sister. Its very stressful when people seem to do nothing more than look at your age and start with the bad news.
I'm so sorry that your sister is upset. It's a frightening time around the NT scan time. At our age (I'm 42 was pregnant with DS at 40) they always suggest an amnio. At 40 1:300 is an excellent result, excellent! I think at 40 years old they say to expect numbers of 1:100. As you can see from my signature I have been pregnant before DS was born. With my 2nd angel I had a nuchal scan and all the stress that it caused me was enought to not have the nuchal scan again when I got pregnant with DS. As someone in their 40's it's pretty much all doom and gloom in the numbers stakes. I went straight away to have a CVS procedure - similar to amnio but you can have the test sooner and they take a sample of your placenta and not the amniotic fluid. Anyway........................everyone is different. You can have the best NT results and still have a baby with a disability. It all comes down to what your sister feels comfortable with. She may want the amnio for peace of mind. If not then I would say congratulations 1:300 is an awesome number. Hope the rest of her pregnancy is enjoyable for her.
At the end of the day it is completely up to her whether she wants to have the amnio or not, I do have another possible suggestion she may consider if she is confident she would keep the baby anyway. We opted to not have a CVS or amnio but to have the anatomy scan at 19 weeks and had them check for any and every possible soft markers. If we still had concerns about downs then we still had a couple of weeks to do an amnio. Apparently an amnio can be done up until 22 weeks - or at least thats what my ob told me. We did the scan and everything looked perfect so we have opted to not do the amnio and I honestly don't even think about the possibility of downs now. I hope she can come to a decision she is comfortable with
1 in 300 is actually pretty good, given the odds based on maternal age are something like 1/109 for a 40 year old mother. So, your sister has better odds than other mums based on age alone.
I had the 12 week scan and the numbers were something like 1/1800. I'd never bothered with the bloods at 10 weeks for my previous two pregnancies, but got pushed into doing the similar test in second trimester. That came back at 1/24! OMG - how could the two tests be so different? I fell pregnant when 34 (35 now). It was a bit of a shock - we were referred to see a genetic counsellor and the obs and sonographer were all kinda pushing that I do the amnio. I decided early on, that i wasn't going to do anything, so what was the point of risking the pregnancy with an amnio? I'll love our baby regardless. Like somebody else mentioned, we did some extra ultra sounds at 16 weeks and then the 20 week scan. The soft markers looked good and the sonographer was pretty happy (apart from an echogenic bowel - which suggested that it was either down's, cystic, a virus I'd had or the baby had ingested blood from my 2 week bleed in first trimester). Great, so we ruled out cystic with more blood tests and apart from that, I'm not stressing about it. I think with my odds of 1/24, it's something like a 4% chance out of 100. So, 1/300 is much, much better.
Tell your sister to go with her gut feeling over everybody else's opinion/s - whether to do further testing, whether she 'feels' that there's anything wrong and what she would do if the amnio results came back positive. And the Dr shouldn't be saying that she 'needs' to do the amnio. It's totally up to your sister as an option, if she chooses.
I think I've been a lot more relaxed about all of this, as we had genetic testing whilst pregnant with DS2 as I'm a carrier for spinal muscular atrophy and my cousin's first girl died from this, so down's risk was nothing compared to the stress of my previous pregnancy. Just trying to put it into perspective.
Good luck and hope everything works out well for your sister!
I think 1:300 for a 40 yr old is a really good number, as this means if your sister had 300 babies then 1 may possibly have DS not 1 baby out of every 300 babies born in the general population. And I feel pretty confident your sister won't be having 300 babies
As everyone has said the decision for an amnio is your sisters and if the baby did have DS would it change her mind at all.
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