How common is it to get positive result for Edward's syndrome?

[MerryMarigold]

Friend is about 15 weeks and had first scan and I guess first blood tests. They have said baby is at risk (based on results) of having Edward's syndrome. Just wondering if this is fairly common and then baby to be fine ie. what the stats are on this.

www.patient.co.uk/doctor/edwards-syndrome-trisomy-18

www.trisomy18.org/site/PageServer?pagename=parents_whatisT18

I had a patau syndrome (trisomy 13) baby after having a health first one,but I did have a few still borns and quite a few miscarriages, a 28 week prem, who died at four months) along the way, then went on to have two more health babies. (mine was one in five babies were fine)

I expect they will have more tests and tell them quite quickly if the is a problem.

Hi I was given an increased risk of Edwards based on my blood test results (v low pappa), scans and NT were fine though. My risk was 1:86 and I was offered further testing which would have confirmed either way.

We decided not to have further testing as the scan looked fine and I went to fetal medicine centre to discuss risk and I was reassured - very difficult decision to make though. i was on aspirin for my pregnancy. My DS was born two years ago (wonderful healthy boy)

Happy for your friend to PM me if needed

my sister was told her baby had Edwards syndrome when she got results from 16 week blood test, she had an amnio which came back clear and her baby was born healthy. Hopefully the same out come for your friend.

Hi Merry, I am not sure as my hospital does the 12 week nuchal and only assesses you for downs.

I did however have a PAPP A of 0.31 and I am worried this indicates a problem too.

Thanks for your positive stories. She's not on MN so can't PM. I think they were trying to decide whether to have the invasive tests or not. Not sure what they have decided. I said my opinion was not to have it as if it were it a result for Edward's, they would need to go through the agony of deciding to terminate or not, which I don't think they would ever do due to religious beliefs. I guess at a 20 week scan they would be able to tell much more?

Hi Merry - do you live in the south east? If so I recommend going to the Fetal medical centre - they do an in depth scan and bloods test and can give you a risk score based on softer markers which they don't look at on the NHS. Also the risk of misscarriage for the invasive testing was alot less with the professor there (1:500 rather than the 1:50 quoted at St Thomas)

We decided to not go for further testing as our revised risk at the fetal medical centre was 1:147 and the scan looked normal. The professor also pointed out to us that Edwards is incompatible with life anyway so although it would have been absolutely horrific to go through it wouldn't mean looking after a disabled child/adult. IYSWIM, if it had been increased risk of downs we would have had the further diagnostic tests.

Yes, we (and they) are in London. I will talk to her about that option.

After my 20 week scan I was taken to one side by the nurse and told that there was water around the brain which was symptomatic of Edward's Syndrome, however she was very keen to reassure me that this was by no means uncommon and although I would be taken into an office and offered an amnio plus further info on Edward's Syndrome, I was not to panic because they are obliged to look on the bleak side just in case. In fact she was very lovely and I got the impression that she was not meant to tell me any of this, but when I was taken into the office, her words were ringing in my ears still so I didn't panic and calmly booked a later scan which confirmed that the water around the brain had now gone and the baby had no other symptoms of Edward's (I refused the amnio).

Since then I've heard of so many other mums being told about Edward's which is weird because Edward's Syndrome is very rare. Most fears are unfounded but the hospital does have a duty to take any risks seriously.

Hopefully your friend will be one of the many mums who give birth to a healthy baby.

After DS I had a missed miscarriage. I had a private ERPC and they ran tests on the products. I was advised that the baby had Edwards. I found this helped me deal with the MC.

Not sure if this is helpful or not, but in the US there is a new blood test that gives a 98%+ accurate chromosomal read. We have to pay for it, so I assume its not available through the NHS. it's called Materni21. Pretty much rules out the need for amnio. Might be worth looking into?

Harmony is the same type of test. FMC do it - approx £400.

FX everything goes ok for your friend.

A friend of mine had scan results indicating possible edward syndrome. She had an amnio, which tragically resulted in the baby dying, following which, they were told she would have been completely healthy.