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High risk combined nuchal screening result?

4 replies

missced · 15/02/2010 12:05

I have just received my combined nuchal screening result from Lewisham hospital. I am 41 years old - will be 42 on my due date, and am 12 weeks pregnant. The nuchal translucency was 1.8mm, and my overall risk, taking into account my age and bloods, was 1/110, which is an improvement on my age related risk alone of 1/62. However, like most women in my position I am feeling more than a little baffled as to what to do and would appreciate your advice/experiences. At my nuchal scan the nasal bone was visible (although this wasn't part of the factors taken into consideration)-so much so that I was joking with the sonographer that the poor child would take after its rather nasally well endowed mother...). We have been affectionately been referring to bump as Beaky ever since. Basically my bloods have improved my odds, which will always be technically on the high risk level (1/150 or more) because of my age. After talking round in circles for a while DH and I have reasoned that as the risk of miscarriage from a CVS (2/100) and an amnio (1/100) are higher than my risk of downs (1/110) (but only just...) then I should skip both invasive tests and hope for the best. But it is a difficult and agonising time as I seriously doubt I could cope with the challenges of a downs child - but I don't want to risk losing a perfectly healthy child to miscarriage. And, more importantly, at 41 and after one miscarriage and two years trying to conceive, this could be my one and only shot at motherhood. What would you do in my situation?

OP posts:
shonaspurtle · 15/02/2010 12:30

Congratulations on your pregnancy! That sounds like a good result to me tbh.

I've not been in your situation and I've got a few years on my side (albeit not currently a pregnancy, I'm 37), but I've been thinking about some of these issues as we're trying, and failing, to conceive our 2nd child and as time goes on obviously the risks go up.

Honestly? In your situation I wouldn't have cvs or amnio and would wait to get the anomaly scan at 20 weeks which could help wrt presence/absence of soft markers (obviously not in themselves conclusive). A detailed cardiac scan might help as well if you're worried about the baby potentially having heart problems if it has DS.

I would also (and have) research DS and have a really good think about what it is you think you wouldn't cope with if your baby had Downs Syndrome. Make a list, be really honest with yourself and see if you can find out how realistic your worries actually are.

Your odds are low. Really low. Less than 1%. Of course, this is easy for me to write, not so easy to live with. You need to weigh up the risks vs how the knowledge one way or another would benefit you.

Thinking of you

fifitot · 15/02/2010 13:18

See my thread below called to Amnio or not. I went through a similar process and decided not to have the test.

I am interested though that you had your nuchal etc at Lewisham Hospital. I didn't know the NHS did nuchal screenings? They don't up North where I am. I paid for a private one and they do take the nasal bone into the equation to help them assess the risk.

If you are in London why not pay for another nuchal screen at the Fetal Medicine Foundation. Others will I think suggest the same thing. I couldn't get to London but did a private nuchal through an accredited FMF centre and I am sure their scans are more accurate than the NHS ones as they take into account other risk factors - though stand to be corrected on this one.

Read the FMF website for more info. Their director pioneered the screening tests and many women swear by him.

BTW - your odds are still good tbh, though the risk of m/c vs an abnormality are quite similar so it's a difficult choice I know.

midori1999 · 16/02/2010 11:56

I have a child with Downs Syndrome and had I known when I was pregnant I may well have decided to terminate. Partly as I already had two children and didn't think it would be fair on them, and partly as I didn't think I'd cope.

However, thank goodness I didn't know! Having a child with Downs is no realy that much different to having a chld without Downs and certainly in some ways has it's positives. For example, my son slept through from day 1 and had to be woken for his feeds, he was a very easy baby.

My other two sons adore him and I actually started my own business after my son was born and childcare was no problem at all.

It would be silly to say there are no negatives, at age almost 6 my son still needs far more supervision that most six year olds, but everything else abotu having a child more than makes up for that.

I am currently pregnant again and have been automatically offered an amnio without any screening. I have decined. Both myself and my husband (who is not the bio father of my other DC) agree that we would be equally happy if these babies (twins) had Downs than if they did not.

Of course, you still have ahuge chance of having a baby without Downs.

Swami23 · 19/02/2010 22:39

Missced - I am about the same age as you and at our 12 week scan they saw the nasal bone and the NT measured 1.7mm. Our risk following the 12 week scan was 1:344 without the nasal bone included in the calculation, and 1:781 if they did include the nasal bone. It was calculated both ways! While I am not a statistician, it appears that including the nasal bone in the equation basically halves the risk. Perhaps if they included the nasal bone your odds would be closer to 1:250. I should also add that had no nasal bone been found then my calculated odds would have been 1:29, so clearly the nasal bone can really swing your risk one direction or the other.

As a note, we declined CVS, but are still debating amnio just to be 100% certain. Our hospital quoted an amnio risk of 1:300 (but probably more like 1:500). A miscarriage rate of 1:100 from amnio seems very high. Is that the value you were told?

It is an agonizing decision for us, so I can only imagine it is that much more difficult for you. Best wishes.

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