Soft markers for Downs

[Rach70]

I was told they had found an isolated echogenic focus at my 20 week scan but that I did not need to worry as it did not increase my risk of downs as it was on its own. All the same, I had another detailed scan which did not find any further markers. At 29 weeks a growth scan said growth was fine but the kidney was dilated (9mm). I was advised by a registrar that this was not a problem. I have just had a further scan at 35 weeks and the kidney is still dilated (10.4mm). I now understand this is another soft marker for downs and have got to have a further detailed scan next week. I am very worried by this and cant understand why I wasnt sent for another scan after my 29 week scan if it was an additional marker. I have had such a stressful pregnancy with all this and now the final few weeks are going to be a nightmare again with stress! And it's too late to do anything about anything. Any words of advice or encouragement would be appreciated as I'm really concerned now.

Just to add, I am 38 and my nuchal scan risk was 1:300 and my triple test risk was 1:260

Hi rach, i have no experience with this, i said no to all the screening tests. I just thought i'd bump your thread and hope someone comes along soon to help you best wishes x

Rach70 - I have no idea what the implications of the kidney dilation per se are..but you seem not to be too troubled about the kidney, so perhaps it is not a serious condition, in itself?

As regards soft markers - they basically seem to mean 'unproven slight possibility of a link'. As you know echogenic focii are, in themselves, totally harmless, and they occur in huge numbers of babies who largely turn out to be unaffected by any conditions. The great majority of children with soft markers f this and that end up NOT having this or that!

DS had two 'soft markers' for a range of trisomies...in fact, the only issue was his talipes - one of the 'soft markers'.

So, of course unless you have had cvs or amnio, there is a chance that your baby may have Downs Syndrome - there's a chance that any baby could have it. But read the SN boards to find plenty of totaly delightful posts about the achieveents of some very lovely children who have Downs Syndrome, do some research...but I would focus on what the kidney condition is..and remember that 'soft marker' means unproven.

I know it's very stressfu being given an indication that anthing is not straightforward and textbook about your baby, and I feel for you over that.

Not sure if this is helpful, but I had several soft markers for Downs with my ds and he's fine. I'm afraid I can't remember they proper names (it was 7 years ago) but he had a calcium deposit in his heart and a rim of fluid i his abdomen. I had a higher nucal scan risk than you - 1:175, I think, but I didn't have any other tests.

But as I said - ds is fine. I won't say try not to worry, because you will - but if the detailed scans haven't shown any growth anomalies or heart problems then that's a positive sign.

Another thing - you don't have to have another scan if you don't want to, you know. It's your decision.

You could ask them how many babies with kidney dilation do NOT have DS.

DS~2 had soft markers for DOwns and Edwards at 20 weeks. CPCs (can't remember what that stands for now but some kind of cyst . And my age being 38, and the face that he was quite small for dates compared to my other 2 babies.

I did choose to have another scan a week later and it had improved slightly, but no more tests. We wouldn't terminate anwyay so pointless.

Thanks everyone. I think the kidney dilation in itself could be serious if left untreated and depending on the severity and cause of the blockage. Of course I am worried about it but I am also worried about there now being more than 1 soft marker.

Hi RACH, I have been where you've been, sympathise totally - it's a spiralling type of stress that's hard to attcah rational thought to.
With dd1 we had 2 soft markers - dilated kidneys, talipes, and also a high risk from triple test. Later on scans revealed growth problems. She was born absolutely fine (no talipes, above avergae weight)and while they kept an eye on the kidneys, the dilation 'resolved' as it invariably does. Dd2 had dilated kidneys too, as did dd3, who also had echogenic foci on rim of heart. All 3 born well and healthy.
A bit of info' on the soft markers on your scans. The kidney dialtion (pylectasis or hydrophrenosis) is increasingly being spotted as scanning technology improves. My sonographer said they see it in about 5% of 'normal' babies. It's so common that they don't even note it now in my Trust unless seen in conjucntion with other markers. Even with dd3 where they saw the dilated kidneys and the echogenic focus, they said that this in itself didn't warrant more invasive testing (ie. amnio) as they were so common and were increasingly being discredited as markers at all (more 'normal development' that we're only now being aware of according to my sonographer who was brilliant). She siad they would need a 'hard' marker to warrant further testing.
Hope this helps a bit. I remember how difficult it was to get some perspective and didn't really relax until the birth. There's lots of support and experience of what you're going through though

Rach, have they said there's a kidney blockage? It's quite rare for dilation itslef to bve caused by a blockage (as you say this would require action - usually an op)It's usally casued by a slight 'kink' in the tube that straightens out over time, causing urine to pass back up and dialte the kidney. The main concern is urine infections after birth from the reflux, so some obs prescribe low dose antibiotics as a precaution. It's rarely serious. Can you remember the degbree of dilation (ie. in mm?)

DS's 'soft markers' were echogenic focii and talipes...they frightened us to death, we had amnio, and it was only later that I discoverd the currency of 'soft marker'

Thanks again to everyone. Diege that's really reassuring and good to hear from someone who can sympathise with my irrational thoughts!!! They havent said it is a blockage - I think that's why they want me to have the more detailed scan. It's the not knowing that makes everything worse (along with the little bits of info and searching online). The dilation is 10.4mm.

Hi Rach, 10.5 is on the mild side at 35 weeks. It's normal for dialtion to increase, as the kidneys themselves are growing. From memory, at 35 weeks (when I had the last kidney scan)my dds measured 15mm, which was said to be 'moderate'.
When's your next scan?

Hi Diege. Thanks again. My next scan is tomorrow so hopefully all will be ok. Will keep you up to date!

Dear Rach,

I was glad to find your post and was wondering how things turned out. I am 24 weeks and facing the same exact things - an echogenic foci and dilated kidney. Would you share how things turned out for you? I am thinking of having an amnio, my next scan is this week.

Hello, i am now 27 weeks pregnant and have discovered i have a few soft markers for ds, echogenic focus, swollen artery and kidney dilation. I have been booked for amnio at 34 weeks (when doctors advise its safer)but am really quite worried about the risks involved and whether its worth the stress on the pregnancy and am thinking about cancelling it. Has anyone else had these soft markers and any info on what you did and what out come was would be very grateful for stories..

Dear Rach and Osulc001, find myself in exactly same position as you two. Are either of you or anyone else able to share experiences on how things turned out, am desperate for some real info frm people in same situation. I'm currently 28 weeks and facing an amnio which i'm not sure i want.

My dd2 presented with echogenic focii at her 20 week scan. They were somewhat concerned as I had dd1 with down syndrome and a heart defect. I was told that although this would increase my risk compared with the general population - that a lot of these focci were being picked up due to continuing sophistication of equipment and sonography. The consultant was not too concerned however as dd2 did not present any other soft markers.

Dd2 was not born with down syndrome. Not that it would have made a difference. We knew about dd1's diagnosis prior to her birth.

My son had 2 markers for ES but he was fine. I refused any invasive tests afterwards and didn't know until birth if he was okay. We then had several months of worries after it was mentioned he might have DS and then the doctor left the room . We didn't care he might have it, just worried months had gone by without any additional support he might have needed.

I hope you get all the answers you need and your pregnancy is no longer stressful.

Thank you so much for your messages, that does help. My first son also has heart problems and has had lots of ops, so we were sent for additional scans where they have picked up these three soft markers for downs in this pregnancy. We know we are having this baby (god willing) what ever the outcome but now the dilema is whether to go on doctors advice and have an amnio at 34 weeks and be more prepared but perhaps more stressed or whether to wait till the babys here to know for sure. I'm obviously still hoping these markers aren't a sign of anything, but it's hard to get it out of my head.

I am writing this message as a father who has a wife currently going through this situation. My wife is expecting twins in Mid May. At her 20 week scan they found 2 soft markers, the echogenic intracardiac focus and a dilated right renal pelvis. My wife and I are very contrasting people, she worries very much and I typically stay calm and research. Well, I have been reading a lot of these posts and have come to the conclusion that both of these soft markers are extremely common and likely won't cause anything negative in the future. We were referred to a perinatologist and just went for a follow-up scan yesterday. I am happy to say that the renal pelvis dilation returned to normal and the intracardiac focus, when found in isolation, I was told presents no increased risk. I just wanted to say thanks to the people who provided their stories and say to hang in there to people in the same situation.

My wife and i are both very strong believers and know that the lord will heal the sick and will never put people in positions that they can't handle. Be strong and best wishes to all!

Thanks Shack67 for your message. I am still weighing it all up and keep swinging from wanting to know and not wanting to know. I'm now nearly 31 weeks and amnio is booked at 34. Has anyone had an amnio at that stage, they tell me its safe for the baby but i'm worried about inducing labour early. Any more advice out there??!! hmm

Hiya,
I thought I'd had my experience to the list.
We just had 2 choroid plexus cycts found in Lo's brain at the 20w scan which is a soft marker and got referred to University College London for a further scan next week.
The posts on mumsnet have been comforting though it is almost impossible not to worry.
I'll update with outcome just in case someone like me looked it up on mn looking for someone going through similar experience.