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Oh Bless you I'd give ur midwife a call on Monday and discuss it with her bet it mine is going overtime. .. hopefully they will getu in for a scan asap and get to the bottom of it I hope that it is all ok for u xx

lou42

Hi there

I'm 18w tomorrow and had one of the blood tests you describe privately (and am a painful £600 lighter as a result). We chose to do it because of my age and some slightly wonky hormone levels in my 12w scan bloods. I went to a place where they could see me the next day, and they got the results back to me in 10-11 days, though they said 10-14 and of course that is ages when you are worrying about something. For me, it was better than a nail-biting wait until the 20w scan!

There were a number of great things about doing that scan, and although we are skint I don't regret spending the money:

- they were able to give us a lot of reassurance about the risk levels based on the results we'd had so far, so I was relatively relaxed for the 10 days.

- you get a second scan, and therefore a second opinion.

- it carries no risk whatsoever to the baby.

Can I ask did you also have a 12w scan or is this the first one you've had? If you did have the 12w then they probably tested for downs and trisomy conditions risk then, though not as accurate they are a pretty good predictor.

Your reaction is perfectly normal and not melodramatic, and I haven't got any experience of echogenic bowel at all, but I bet you any money that the balance of probability is heavily weighted towards the more innocuous explanations of blood swallowing or infection.

Let me know if you want any more details about the place I went to. Sending you lots of positive vibes and chilled out thoughts, hope you are ok xx

SilkeP

Thank you both very much for your quick responses!

I will definitely call my hospital on Monday and see whether they can discuss this a little bit further with me.

Lou42, where did you have your test done? I live in London and there seem to be a couple of places where I could go to.

My 12-week scan was fine, I was classed as 'low risk', so I'd pretty much ticked off Down Syndrome as a possibility, but following the scan today I'm more nervous than I've ever been before during this pregnancy!

I seem to be spending an awful lot of money on private check ups, but in this case I do wonder whether it is worth finding another £600 to be sure.

lou42

Hi SilkeP

I went to this place:

The Birth Company

137 Harley Street

London, W1G 6BF

Tel: 0207 725 0528

They are in the same building as the private team who invented the test (the senior professor guy at Kings College) and it is the exact same lab they use in the US. The reason I went to them instead is they could see me quicker, as I'd have had to wait another week. They are £50 more expensive though, all in.

I was told by the lady doing the test that she'd never seen a positive result for Downs come back with a low risk number, only things like 1:20 and 1:5. Don't know if that makes you feel better but it bloody well made me relax!

We didn't particularly talk about Trisomy but I suspect the same would be true.

I'm pretty sure the test doesn't check for CF, so you may well be none the wiser on that point.

Oh and you can also find out 100% the gender, if you are interested.

I agree with Babymother that maybe call the midwife and weigh up your options, see if you can get an earlier test.

xx

DrFluffy

I guess it all depends on how thing affect what you might do regarding your pregnancy. Of a potential problem wouldn't affect whether you would continue, then the Harmony test would ba a waste of money (plus wouldn't tell you anything a out CF). It would be unusual to have a pregnancy affected by a trisomy without other structural abnormalities, but sounds like the ultrasonographer is worried about something called Hirshprung's. What was your screening risk?

With regards to CF - a mutation 'could' be new (or de novo) in baby, but that would be much more unusual) but one thing you could do is ask for both yourself and babies dad to be tested for the most common mutations - you both need to be carriers for baby to be affected

Call your midwife and obstetrician first thing tomorrow and get your scan moved to an emergency slot - I'd be surprised if they don't offer you an earlier scan.

Xxx

DrFluffy

These people are a good point if support too;

Antenatal Results and Choices (ARC)

ARC provides impartial information and individual support to parents going through antenatal screening or whose unborn baby has been diagnosed with an abnormality.

73 Charlotte Street

London

W1T 4PN

Helpline: 0207 631 0285 Email: info@arc-uk.org Website: arc-uk.org

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When I was 10 weeks pregnant they did picked up echogenic on the scan and I was told it will go away after sometimes but I had a m/c at 13 weeks, so I am not sure what was it and what causes it. I had infection during pregnancy but if I was you I would just try and be calm and try not to think about it and leave it into Gods hand because He's our maker and He's incharge of our wellbeing.

Hidden

First of all your reaction is completely normal. I've been worrying myself sick for even smaller concerns. I think this is what they call maternal instinct.

With regards to the Harmony test you can have it at Dr Nicolaides's fetal medicine centre for £400. You can also book another scan for about £180. Please note that the harmony test is highly accurate for Down's syndrome (99%) but when it comes to the other trisomies it is not more accurate than the risk assessment you had at 12weeks (the combination of the scan and the blood tests).

Amniocentesis (the needle through your tummy) remains the most accurate diagnostic method. In addition to detecting trisomies, it can also show any structural problems on all the other chromosomes. You can have it privately too if you don't wish to wait that long (£400 at the fetal medicine centre).

Occasionally tests like harmony may be offered at NHS but my understanding is that it is incredibly difficult to get referral. Call the following people to ask for more information:

rapid.nhs.uk/

Best of luck!

SilkeP

Thank you again to everyone who has replied, it really helps getting some feedback!

I have contacted both, the Birth Company and the Fetal Medical Centre, but as it is the weekend I need to wait to hear back from them.

I was told that my NHS hospital should offer me a CF test for free by taking blood form me and my partner, to see whether this could be the reason for the abnormality. To be honest, looking at all the possible outcomes, CF doesn't scare me, we have got a friend in his 30s who lives very well with it and a friend of mine has a two year old who has regular hospital visits but is otherwise happy and healthy, so even though I am hoping that my baby hasn't got CF, I could deal with that I believe.

Dr Fluffy, I was wondering just the same: would I be able to terminate if I knew what was wrong? Both my partner and I feel that it would be cruel to terminate at this stage because of Downs, although it would mean a huge commitment for the rest of our lives. With the other trisomy illnesses I'm not so sure... I've read that many babys are either stillborn or die within weeks or months, and then you have to wonder whether it is good to put a baby or us through all of that. And still, I don't know how I'd decide..

At my 12-week scan all seemed fine and I was told I was at low risk for Downs, so could you tell me, with the absence of any other abnormalities and the low risk diagnosis as 12 weeks, does this mean that a trisomy disorder is unlikely?

We will be calling the hospital tomorrow and see what they can do in terms of tests or reassurance, and hopefully will get an earlier scan as well. I'll give ARC a call too, thank you!

Babymummy, do you know whether I could just have the Harmony test for £400? I've read somewhere that you have to have the scan with it, ie pay the additional other £150/£180.

I'm not sure about having the Amniocentesis test, I'd be scared not of the needle but the miscarriage risk :-S

Thanks again everyone - will keep you updated!

Silke

lou42

Good luck with it all Silke, I'm sure all will be fine but look forward to hearing how it's gone - we'll all be thinking of you xxx

SilkeP

Hello everyone,

just thought I'd send a brief update - first of all because I said I would, but also because someone else might be in the same position some time.

We went back to our hospital with the notes - me feeling rather stressed out by the possible bad news - and asked to speak to another doctor. We were sent to a fetal specialist, who really took his time with us.

He scanned my belly again and checked all organs, and yes the bowl was still 'bright'.

He then went through my risk factors from my 12-week scan and whilst I had known that my risk was considered 'low' I was never told the exact figures. Turns out, my risk for Downs is 1:11.000, the risk for Trisomy 13 is 1:28.000 and for Trisomny 18 is 1:89.000.

He then said that he couldn't guarantee me a healthy baby, but that these risk factors are SO low that I really shouldn't get stressed about these possibilities, especially as all other measurements are fine and the little one was kicking away happily. He offered me amniocentisis, needle through the stomach, but said that he doesn't think it would be worth it, especially considering the risk factors associated with the actual procedure (which is still small, but why risk it in the first place if there's no real need).

This somewhat made me feel more relaxed. Then we moved on to other possibilities: Cystic Fibrosis. Both my partner and I agree that the baby having cystic fibrosis would not change our mind of having the baby, especially not at this late stage! We could've had blood tests to see whether we are carriers of the genetic defect, but this would still not tell us whether the baby has cystic fibrosis. We have therefore chosen to have the baby tested for this as soon as it is born.

I was still feeling a bit funny about the 'bright' bowl, so the doctor put me down on the bed again and got his scanner out again. He then asked me to focus on the amniotic fluid and asked me whether I could see bits swimming in the fluid. Looking closely I could see it. He explained that in some pregnancy that simply happens, and there's no explanation why, but it just does. He then explained that the most likely reason for the baby's bright bowl is that the little one has swallowed the amniotic fluid and with it those bits, which are now showing up in its bowl. Now this actually made sense to me!

All in all this doctor really took his time, went through all possibilities and reassured us. There will be a little bit of concern until our little one is here, and healthy, but this doctor has made us relax more so we're keeping our fingers crossed!

Hope everyone else out there is well!

Silke