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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

2 soft markers found on scan- scared witless!

13 replies

gemmeg · 15/09/2013 11:56

Hello everyone,

I'm currently 23 weeks pregnant and had a detailed scan at hospital last week which picked up 2 things:

  1. Mild kidney dilation on left (4.1mm, the right was 3.7mm)
  2. White spot in left ventricle of heart

Both of these are considered "soft markers" for Down's syndrome and now I'm bricking it.

I opted out of the combined test in the 1st trimester as I didn't want to be stressed out my whole pregnancy with a bad outcome but now I'm more stressed than ever!! I have to go back for a follow-up scan in 4 weeks to check the kidney then in 6 weeks for the heart. I'd be interested to know what it means if these markers just disappear? Are they then considered significant for Down's syndrome?

Does anyone have any words of wisdom or reassurance for me as I'm slowly going insane googling for every piece of info. I'm 31 and this will be my second child. Thanks in advance.

OP posts:
Arrtttiiieee · 15/09/2013 12:03

You poor thing. I am afraid I know nothing about those soft markets but I know a little of how you are feeling as my combined test was 1 in 10 for Downs (DS is fine).

It's hard to talk about but the key question is whether you would continue with a Downs pregnancy. If you might not then I would ask for an immediate amnio to get a definitive answer before 24 weeks. If you would continue you may still wish to have an amnio for certainty. If you don't want invasive testing but want more certainty then there are some great private clinics which will do very detailed scans and checks. I used the Fetal Medicine Centre in London and it was superb.

Good luck.

Alanna1 · 15/09/2013 12:11

If you have the money and want to know for sure, there's a non invasive test you can have done in the USA. Takes mum's blood and extracts the baby's blood in it, then runs the chromosome test. I've heard there are some NHS trials and that its cleared the regulatory hurdles in one European country too, but don't know the details - your hospital might. The woman I vaguely know who had it done apparently flew to New York.

Arrtttiiieee · 15/09/2013 12:15

It's called the Harmony Test. I had it done at the Fetal Medicine Centre and other clinics in the UK now offer it. If you call the Fetal Medicine Centre they can talk you through it, there is also a long thread about it in the Antenatal Tests section on here. It's over 99% accurate for Downs but the results take 10 days as the bloods have to be sent to California.

gemmeg · 15/09/2013 12:18

Thanks for your posts. I was offered the chance to have an amino but I don't think I'll take it just because of the risks associated and I wouldn't end this pregnancy anyway. She's a squirming little being and I just couldn't go through with it. We will deal with whatever we get. I have heard of the non-invasive blood test. I live in Austria and it costs 1300 euros! I don't think we'll go for that either. You even have to pay for combined testing here which is over 100 euros. My DH is super positive and keeps telling me these markers I have are the weakest there are and mean nothing. If I had just one I would feel ok but with 2......as I said, I didn't have the combined test done so have no idea what my risk would have been so there's no way to figure out what the risk is with these 2 markers. Kept trying to tell myself that it shouldn't matter as we're having this baby no matter what but it's easier said than done!

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TipsyandTom · 15/09/2013 12:30

I can't really answer your questions, and I expect that someone with some actual expertise will be along soon, but will share my experience in case it is reassuring.

My dc1 had 3 soft markers at the 20 week scan - heart, kidney and brain, although can't now remember exact details, think it was also a white spot on heart.

Was told that having the three markers meant a roughly doubled risk of Down's syndrome - no idea if this is based on anything, as my frantic goggling yielded nothing helpful (and I had thought that a soft marker wasn't something that lent itself to statistics). But it was in any case for me a risk doubled from one in hundreds to one in a few less hundreds, so still pretty low risk.

The markers had disappeared by later scans, and DC1 does not have Down's Syndrome. She's now nearly 3, so the details of the scan are fading in my memory - but I do remember it being a very, very stressful time, even though I knew that objectively the risk was still low, so I have every sympathy.

No one could tell me what/why these markers were, just that these things appear sometimes, and they are not anything to worry about in themselves.

Try to remember that the statistics are still very much on your side - I was a couple of years older, with three markers, and still considered low risk. My only real words of wisdom are step away from google, and eat lots of Biscuit

diege · 15/09/2013 13:27

gemmeg, I work in antenatal screening and we no longer consider kidney dilation or 'bright spots' in heart soft markers for chromosome disorders. The degree of dilation you mention in the renal pelves (kidney) is also under the recommended threshold for reporting (ie, currently has to be above 5mm in my HA). If the dilation had been 5mm or over we would offer a recscan at 28 weeks, not for chromosome issues, but to keep on eye on things as baby may be more prone to urine infections after birth. As things stand for you, the dilation wouldn't have even been mentioned as it's within normal limits. Heart 'bright spot' also extremely common and we mention in report only if seen in conjunction with a 'hard' marker (ie. something structural and obvious). Hope this reassures you a bit. If you give ARC a ring (antenatal results and choices) they will also confirm that the 'markers' you mention are now treated (since 2010) according to new guidelines.

katebakes · 15/09/2013 16:46

I sympathise with you! I was in America for my 20 weeks scan and they found a healthy lovely baby with a dilated kidney. The songographer didn't mention it but the doctor called me later to tell me.

I was devastated. Then I phoned the NHS maternal foetal assessment unit and they, along with the NICE report, confirmed that in the UK kidney dilation is NOT considered a single soft marker. I of course still worried and read more journal articles than I ever did at university! Some say that the number you were given at your first trimester combined blood test and anomaly scan increases, the midwife told me it doesn't.

Hubby and I'd decided over a very teary lunch that whatever the outcome we were excited to be having a wonderful little boy. At 25 weeks there was no dilation and he was fine! They did measure his nuchal fold at 6.3mm which scared me. I was told by the midwives and a private OB that they shouldn't have measure this at all as they do not count the measurement for nuchal fold after 22 weeks. The private OB told me that the sonographer measured his nuchal fold AND his cord, which was wrapped around his neck (another worry!). I thought she was an idiot at the time!

I know nothing can reassure you and I really hope you step away from scary google and have a cup of tea.

FraggleRock77 · 15/09/2013 17:47

I'm sorry to hear your news. We had one soft marker in the bowel of our boy 3 weeks ago and it was awfully stressful. We used the Harmony Group for a test. Expensive but really professional and we had a good result back. Good luck xxx

Bodicea · 15/09/2013 18:07

I am a sonographer and under new national fasp regulations dilated renal pelvis is only classed at 7mm or above and we don't report white spot in heart ear any more .

This seem very out of day to be reporting this especially the kidney measurements - which to me are totally normal sizes for renal pelvis.

I would not be worried at all.

lljkk · 15/09/2013 18:47

DS kidney got flagged for renal pelvis thingie, I remember that anxiety well.
I heard a story of a baby who had like 4-5 soft markers, parents very stressed out. Born and YES she had those problems (like club foot) but she did Not have a chromosome problem. Just a few oddities.

gemmeg · 15/09/2013 19:16

Omg...thank you so much for your reassuring posts! diege I was secretly hoping you'd write as I'd seen you mention on other people's threads that you are work in ante-natal screening. Your comments have really helped Smile as have yours bodicea

I live in Austria so I guess the guidelines here are just different. RPD is mentioned above 4 mm. I have resolved to stay away from google and am going to try and remain cautiously optimistic! I know it sounds like a terrible attitude to have but I always think if I expect the worst then I can only be pleasantly surprised Hmm but I suppose this isn't great for stress levels. Thanks again.

OP posts:
Bodicea · 15/09/2013 19:33

Glad too hear. Congratulations on your pregnancy. Please excuse all my typos by the way. Fat fingers on iPhone!

diege · 15/09/2013 20:08

So glad you're feeling better. I work in the research-side of screening and for a national screening organisation and iirc one of the key reasons for broadening the criteria for renal pelves measurements was because too many women were having unnecessary amnios after the dilation had been flagged up. IIRC one study looked at over 6000 women who had dilation 6mm or lower (and no structural issues) and NOT ONE ended up with a chromosome 'problem'. On a personal note, all 5 of my children had dilation noted, from 4mm (was the threshold for my hosp in 2001) to 13mm later on in the pregnancy, and in all 5 the dilation had resolved by 10 weeks post-natal.

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