Okay, my sister found out she is pregnant 2 weeks ago.
She is 40 yrs old.
Had 1st u/sound at 12 weeks. Where she was told nuchal fold looked great. She then went n had the blood test.
Now, the Dr has told her results said 1:300
And that she needs to have that amnio test thingy...
However, from what I have quickly googled, 1:300 is the normal range.
Can someone help me with this?
My sister is in tears and I just want to be able to offer her some comfort and knowledge.
I honestly think she needs to either get a second opinion or question the Dr as to why he wants to do an amnio. i think her odds are pretty good for her age. If later in the pregnancy there are concerns then yes further testing should be done but for now i think its fine.
Hun, 1 in 300 is great adds, I agree. My doc told me it's a bit of a worry if it's 1 in 50 or less. As long as the fold is good and the nasal bone is good, I think it's OK. I know of a couple of friends who were 40 + who elected to have the amnio because they were older. The chance of a m/c after an amnio is 1 to 2 percent from memory. I would weigh up all the bits and pieces and go with what you feel comfortable with. I had a pg at 38 and at 39, and I didn't elect for an amnio. I didn't want to risk a m/c. GL to your sis hun xo
I would definitely get a second opinion. 1:300 is the lower end of normal range and there is a high chance of miscarriage with an amnio. For her age, this result is pretty good.
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.
OK, she needs to weigh this up. The 1 in 300 is based on three things, the nuchal fold measurement, her bloods and her age. They combine them to get a combined result. If they just went on her age, the odds would be much worse than 1 in 300 - maybe 1 in 50 but you can look that up. That means that her nuchal fold and bloods are quite good because the odds have been pushed out to 1 in 300.
I would advise her to look into it in more detail. There is a risk of miscarriage from an amnio and I can't remember if it's 1 in 250 or 1 in 300. Something around that but my ob told me that some amnio testers have better odds than others so that's also worth looking into. So basically her risk of a miscarriage is about the same as the risk of having a baby with Downs but to me, based on her age, I don't think the 1 in 300 risk is too bad. She has a 299 chance in 300 of having a non-Downs baby.
I was an older mum too so I know what the stress is like. I THINK (again check) that she could wait until the 18 (or is it 20?) morphology scan - it won't give her a definitive yes/no but my ob told me that in the case of Downs the scan could pick up other associated physical signs. PLEASE CHECK THIS OUT FOR YOURSELF, my brain is fried and I don't know if I'm remembering this correctly. There is also another test, called the CVS test but as I've never had it, I'm not too sure if that's appropriate - it can identify Down's.
So, on the whole, my advice would be to look into it in far more detail before deciding whether or not to go ahead with the amnio.
Just also wanted to pop in and say that I think those odds are good and the suggestions for looking at soft markers at the 20 week scan is a great idea. FWIW my girlfriend had similar odds, with a soft heart marker but nothing else. She chose against having an amnio as wasn't going to terminate, and decided that she would deal with it if it happened. She had a healthy boy 2 weeks ago!!
i'm also going to say that 1:300 is pretty good. especially if the person doing the u/s thought the nuchal fold looked good (if she wants, she could also ask, if she hasn't, whether they can see a nasal bone - also a good indicator). fwiw, i am 37 & ended up with a risk of 1:291. being me, i couldn't let it go & chose to have a CVS. in my case it was the blood test results that brought the risk to what it was (along with age). everything turned out fine. it's important to have some counselling or a dr that is really good at talking through the risks of the diagnostic procedures and for giving some perspective. i was lucky that the dr who did my u/s is a leading perinatal surgeon & my own GP was also great. they both put me at ease saying that 1:291 was pretty good considering my age but that they totally understood if i wanted the diagnostic test 'to be sure'.
i thought that the result had to be a greater risk than 1:300 before they suggested a CVS or amnio? i think it's silly of her dr to automatically say she needs to have an amnio (and did he even suggest a CVS &/or talk through the risks of either procedure?! a CVS can be done sooner but has a slightly greater risk of m/c) - especially without talking it through.
if you sister does decide to go ahead with a diagnostic procedure, then i would happily recommend the dr who did mine, feel free to PM me for details. the risks of m/c associated with either procedure also really depend on the dr doing it so it's worth looking around to get someone she is really happy with (if she chooses to proceed).
Last edited by sloane; March 16th, 2012 at 02:32 PM.
As PP have said, the screening odds are good for her age. She could wait until the morphology scan, realising that scans are not diagnostic and things can be missed. She may want to talk to a genetic counsellor for advice. She can have an amnio anytime up to birth. In Victoria, it is legal to terminate anytime up to birth, based on approval by a tertiary hospital ethics board. Note, that if she chose to terminate after the morphology scan, she would most likely have to birth the baby. Up to about 16 weeks, she could have a D&E.
Firstly, she needs to think about whether or not she would continue a pregnancy if the baby had T21. There is no right or wrong answer there. she may want to talk to people about what it actually means. Whilst some people with DS, especially mosaic DS, are high functioning, most have ongoing physical and mental health problems. Which is why I suggest she talk to a genetic counsellor. They're trained to help people make the best decision for their family.
If she chooses to have an amnio, the genetic counsellor may be able to guarantee a more experienced doctor to do it. Otherwise, there are a number of very good OB specialists who are expert in it. Their risks are lower than the general 1%.
As an FYI, both my boys were chromosomally normal and had different fatal conditions. Both had great NT scan results and one had a normal morphology scan. The NT scan is not the be all and end all. It is just one indicator and the accuracy differs depending on who is doing it.
If she needs to know either way for peace of mind, then I'd get an amnio. If she wouldn't terminate but would like to be prepared if the baby has DS, I'd get an amnio. If the fear of miscarriage outweighs the fear of DS, then I wouldn't get it.
I've had an amnio. It hurt and I found it stressful, but we already knew DS2 was sick. It didn't hurt him and it was over quickly.
I'd tell her to take time to process everything, do some research, talk to a genetic counsellor and then make the decision.
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HELP! question about downs syndrome..
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