very worried dad soft markers on scan

[challis1987]

Hi guys me and my partner are expecting , at the twelve week scan they had a soft marker of fluid behind the neck , we was scanned a week late by a consultant with a more intense ultrasound , where he discovered the nasal bridge bone was not visible also the baby has rocker bottom foot/feet , our chances of downs are 1-103 but possibly could be Edwards or patau syndrome has anybody had similar scans and could shed some light as obviously we have taken news quite bad , if baby has downs we are not worried but the other two syndromes are quite scary , unfortunately my partner does not want the screening test as possible chance of miscarriage , any help advice or personal experiences would be greatly appreciated thanks in advance

[user301204]

Hi challis, I was 1:174 chance of Edwards, so didn't feel an invasive test was the right way to go, as it carries a 1:100 chance of miscarriage. But we were still worried as this seemed quite high (for my daughter she was 1:144,000). We've been offered an extra scan at 16 weeks, but the NHS midwife also told us about the Harmony test. It's a non-invasive test not offered I the NHS, but is much more accurate than the current NHS screening. This might be a good option for you. If you contact ARC they may be able to advise of a good clinic near you that can perform the test. I went to the Fetal Medicine Centre in London...after much research they appear to have a very good reputation and are also the cheapest (at £500, including scan). While there they took bloods and did a very thorough scan, at which point they revised my odds to 1:4. Their advice based on that was to skip the Harmony test and go straight for an invasive test. The logic was that if the non-invasive test comes back positive, it's still only a screening test and not a firm diagnosis....so they wouldn't advise termination without then having an invasive test to be sure. And for me there's a much higher chance of a trisomy than of miscarriage. So, we went straight to the invasive CVS test. I had the test last Thursday and should get the results tomorrow. Do you and your partner know what you would do if the baby did have Edwards or Pateau? Knowing the answer to this has guided us in our decision making so far.
Good luck and take care.

[challis1987]

Not sure what odds are with regards to Edwards syndrome or Palau but they quite worrying when you read up on them , but been searching quite a lot and people have odds of 1-10 and had a perfectly healthy baby , downs doesn't worry us , but the idea of having baby put in your arms and then not being with you for very long is worrying me already , I already fought for my first daughter for two n half years through legal system and didn't really let out any emotion so I think I would be due a nervous breakdown if the worst case scenario happened , my partner wants to go ahead with it , but I don't think she has thought about it properly , it's just so daunting the not knowing for certain but I must say it's made us stronger ! , hope the results are the one your hoping for , good luck and thanks for the reply xx

[Cuppachaplz]

How awful for you both to be going through this.
As the red baron suggested, there are other blood tests available. I was given high odds of trisomies based on bloods 3w ago. The midwife informed me that the NIFTY test is better than the harmony for detecting Edwards or Patau's. Be aware that this still only gives odds, as said before, but is much more accurate. We decided against these tests as at 19 weeks, waiting a further 2 weeks was not an options for us. Also, when I spoke to the consultant, it transpired that in our case , it was only downs that was a concern, which didn't bother us, however after 15 miscarriages previously, the risk of an amnio was far to great to contemplate. We declined the amnio, and are waiting to see what happens. My odds were given as 1 in 48, so that's 47 in 48 that all is well.
Bets wishes and good luck with whatever you decide