2 soft markers, RPD and Nuchal fold abnormal, advice needed!

[delilahhh]

Hi ladies, first post on here, and first baby.

If anyone has any words of wisdom, then I could use some support.
Basically, had my scan yesterday at 21 weeks 2 days, and mostly everything looked fine, except my baby boy has RPD or 'baggy kidneys' is also what they were refered to as. Basically, I was told this by itself wasn't too serious and usually goes away by during or after pregnancy, but as it is also linked to babies with chromosonal problems like downs syndrome, they also measured my babys nuchal fold twice, and although they said he wasn't in the best position, the fold was measured at 6mm, which is boarderline and anything over 6mm would be considered to give the baby a higher risk of having down's.

This is my first pregnancy and I have to say, as rational as I'm trying to be, I'm no less than worried out of my mind!

At my previous scan, the sonographer dated my baby at just 11 weeks so my baby was too small, in a bad position, and therefore she didn't measure the nuchal translucency then. So instead of going back for another early scan, at 16 weeks I had the blood test which gave me a low risk of having a 1 in 25000 chance of having a baby with a choromosonal abnormality. I'm also only 22 so still fairly young so was expecting to be low risk, and I know that these tests are not diagnostic so I should try not to worry too much. I'm waiting to hear back from my Fetal Medicine Unit about booking in for another more detailed scan with a consultant, and hopefully everything will look ok then. I'm not sure whether I would go ahead for amniocentesis as even if I found out my baby has down's, I don't think I could bring myself to have a termination, plus by the time all the testing is done, it wouldnt be an option anyway.
I rang a helpline and they said I can opt for a blood test to be sent off to America where they can test for down's, but it will cost me £600 that I do not have. My mind is frazzeld and although I doubt anything will be really wrong with my baby, I'm also not dealing with the news very well!

Furthmore, the sonographer really put a lot of pressure on my abdomen when scanning me and I feel like ive got a bruise even though there's no marks, my stomach is now very tender to the touch.

Any advice or help or shared experiences would be appreciated, thanks x

This happened to me, so I understand your terror. You feel like you're not being given all the info and you just want to know if your baby is ok.

It sounds like they are sending you in the right direction. If you can learn and practice some relaxation techniques that would be very useful to your and the baby's well being.

Everyone is different, but it isn't always bad news, try and take it a step at a time.

What are the two soft markers? I ask because in and of itself the kidney dilation isn't considered a marker for ds anymore (I work in antenatal screening). Indeed, 'soft marker' as a concept is outdated as we only consider as a 'possible but unknown related finding' if seen in conjunction with a structural marker ('hard marker'). The nuchal fold at 21 plus weeks is also probably nothing. The cut off at 20 weeks is 6mm, although many 'normal' babies have this, and I would imagine that if you had been scanned last week it would have been under 6mm. The blood test you are being offered is probably the harmony test so might be worth reading through the threads on here if it's a possibility. Personally I would say you have nothing to worry about, but I have been where you have been with dd1 (3 markers + high risk screening from bloods). 4 out of 5 of dcs have also had dilated kidneys too and all well!

Ah sorry, just re-read your post and see you mean the 2 soft markers are nf and kidney thing - even more reassuring them IMO xx

Hey mayaswell and diege, thanks so much for replying, I'm feeling a lot calmer about it all now, your messages have helped. I have my appointment with the consultant on monday so hopefully they will be able to put my mind at rest some more. The chairty ARC has also helped reassure me that with my bloodwork at 16 weeks giving me such low risk, the chances are still going to be very low even with the RPD and nuchal fold being borderline. So glad too hear all your babys are fighting fit diege! I'll let you guys know the outcome on monday. The news has definetly taken me on an emotional rollarcoaster, and I feel for all the women who have been in this position and much worse, being a mother and caring about another person so much is a beautiful and terrifying prospect! Thanks again x

Hey ladies, update about scan if you want to read...

Had another scan with a consultant, she re-measured the nuchal fold a few times, and she got readings as low as 3.5mm and as high as 5.2mm depending on position of baby and the screenshot they measure when doing the scan. So at 22 weeks this fold measured was within 'normal' range. (just goes to show you how innaccurate those measurements are when in one sitting she gave me about 4 different readings of the nuchal fold) Also, although I've read that once you have one large reading youre chances are always higher for there to be a chromosonal problem and it doesnt matter if the reading is subsequently 'normal' again, I asked the consultant this and asked are majority of babies with downs still born with a large nuchal fold present and she said yes, so if my baby did have downs, he would still be more likely to continue to have a larger nuchal fold throughout pregnancy. She took a look at the images from previous scan and could see how baby had flexed his head back as well which could be responsible for the larger reading.

RPD was still present, but only mildly, fluid in the kidneys is meant to be below 7mm, anything above is classed as a dilation. So in one kidney he had fluid of about 7.5mm, and in the other it was 8mm. So it is only mild, anything above 9mm is considered 'moderate rpd' and anything above 10 is considered strong rpd. Through some research, ive also found that RPD is more prevelant in boys as well! All in all I'm feeling much more convinced that everything will be fine, even if the RPD is still present at birth, its nothing i cant handle, just means baby has to be put on antibiotics to ensure he doesnt get a kidney infection and it would just be something to keep an eye on as he grows up that hes likely to grow out of.
She also rechecked other measurements and took a good look at his heart and couldnt see any other problems, although she reminded me that women who have normal scans and normal blood tests, can still end up having a baby with a range of problems.

Got to go back at 30 weeks for a scan to see if RPD is still present, and if so, means when baby is born, and hes three days old (enough time for his system to have started functioning efficiently independently) he will have to have his own scan to see if its gone away.

She mentioned to me that technically my chances are more like 1 in 200 now just because 1 in 200 babies scanned with rpd are born with downs, and she informed me about amnio, and that if I was still worried that I could have the procedure to find out, but as previously mentioned, the chances are actually higher that I could miscarry than the chance there actually is a problem anyway so it's not a risk i am willing to take myself, although I definetley understand why women do it, as those few days of feeling lost in the unknown were terrifying. I asked her about harmony blood test and she said it will hopefully be offered in the UK in the next few years or another non-invasive procedure will be. Which is good news for future ladies!

I have to say though, she wasnt the most reassuring doctor and I felt as if she didnt really have time for me as the waiting room was packed, so as technically unprofessional that is, I guess it can also only mean that she didnt think i had anything to worry about otherwise she would have kept me around longer. Anyway, thanks for your messages and I'll let you know what happens when my little one is born, and even if he does have a health issue, I will try my best to be strong and handle it. Cant wait to meet my little boy however he comes out!
xxxx

Hey that's brilliant news! I think you are being very sensible and measured in how you are dealing with this - the chances of there being a problem are miniscule. Remember too that the vast majority of cases of RPD resolve spontaneously, but not always within a few days (that's why my hosp don't rescan until 10 weeks now). With ds2 the dilation had reduced to around where your baby's levels are now, and we were discharged on the basis they had reduced and were resolving. The link with chromosome problems is soo controversial now - the scanning guidelines produced where I work specifically say that there is insufficient evidence now to link to downs if no other 'hard' markers found, and while it should be mentioned as a finding this is only in order for it to be monitored in pregnancy to see if ABs are required after birth. I think your decision to avoid an amnio is a very rational one. The harmony test IS available in the UK currently (just not free on NHS) but quite pricey. Again I don't personally it's something I would think about in your case as you don't actually have any soft markers now for ds based on current guidelines

Thanks diege, your messages have really help me feel better! It's been a strange few days and taught me to start prepaing for things better, as I really was naively walking into that scan thinking 'Ooh I get to find out if it's a girl or a boy!' rather than being prepared by researching what they actually look for at the anamoly scan. Silly me ey! So next step is to start mapping out by birth plan properly and prepare for the unexpected! Thanks again and I'll let you know how it goes, still 17 weeks to go! xxx

Oh good, I'm glad you feel better . I have a scan at 34 weeks for low placenta and fully expect to be joining the RPD club with you then - will be surprised if there is no dilation! 10 weeks to go here!

Well you sound like a fantastic mother who's done her research so your baby is in good hands!!! x

Thank-you!