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

[delilah]

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

 

[Toria111]

Hey, I haven't had any experience with what you are going through right now. But I did have a scare with my first pregnancy, they totally freaked me out. I was in tears for weeks thinking my baby was going to die. Lots of scans and extra bloods and then I saw the consultant and he said "I don't know why you are here, I don't see any problems". I was so annoyed with everyone for putting me through all that, and everything turned out fine.

Hopefully they are just being over cautious with you. X

 

[NinjaKitty]

As you have said the Harmony test costs 500-600 pounds and is unfortunately the only non invasive tests that would give you the answers.

Also as you have mentioned the tests such CVS or amino are invasive and carry a risk of miscarriage BUT they are the only definitive genetic tests. It is worth researching the miscarriage rates at your particular hospital. The stats they you are given are sort of worst case scenario countrywide. It does not not into account individual practitioners. With anything like this there are some who are better than others and have a very low percentage of issues.

It is a very emotive issue and people have very varying opinions on it in general. My personal opinion is that it's better to find out as much as possible before baby is here. This is purely because there is a range of chromosomal conditions that are checked for like Patau or Edwards syndrome which can be devastating during pregnancy.

I do believe there are other forms of checks that can be done such as specialised scans etc but these would normally be private and you'd have to pay. I've asked someone who has researched this more than me to post.

At the end of the day there is no right or wrong decision. As I said its a very personal choice. Just do the research and see what you are comfortable and able to do. Best of luck xxx




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[LYLLJellyTots]

Hey Hunnie, ninjakitty asked me to have a look at this thread and I'm glad she did x

It's an awful place to be in when there are a thousand things running around in your mind x as nk said the figures they give you with the amnio are the uk averages really, each hospital and in fact each doctor will have their own success numbers, my hospital was 2 losses per 700 procedures, so even less than the national percentages.

What you have to work out is what that knowledge will give you in terms of peace of mind. At the moment your 16 weeks quad test was low risk, which is good, but not having that 12 week NT measurement means you missed out on the biggest telling scan.

The next scan, particularly if its with a Fetal medical expert will tell you a lot more. If you had an amnio and it came back with a positive result for a chromosomal problem their next step would be an in depth scan with a Fetal medical expert anyway. No one can understand what it is like to make the decision to have an amnio / not have an amnio unless they have been there, until I was faced with it I was in fact very ignorant about it. 'I'd never have that done' etc etc but when you are faced with it it's a different ball game. I was very high risk for my age (1/30 risk and only 26) and completely didn't expect it at all, felt like I had been hit by a train and my mind was everywhere x there are good helplines out there Hun, ARC and the DS support ones too who can offer a lot of support x

The thing with the NT measurement is it depends where baby is laying how good the view is etc etc if they took a different measurement tomorrow it could be slightly bigger or slightly smaller if baby is lay a different way. We decided against having an amnio but we ended up going down to London for a private heart scan with the FMC on Harley street. The Down's syndrome would not have been a problem for us, but 50% of babies with DS have heart problems and we didn't want to miss a potential heart problem because of not having the amnio x

It's the FMC who actually offer the harmony blood tests too, but £600 is a lot of pennies and not always a possibility to get hold of. It's £200 for a scan there and £200 for an expert consultation, in my eyes that money if available could be used better that way maybe? The man who owns the FMC is the same one who worked on creating the Fetal screening to begin with.

I will also say that a lot of babies have soft markers and end up being absolutely fine x that's why most hospitals won't mention them unless there are a few together x

Sending lots of love and thoughts for you and yours Hun, it's an awful place to be in and I hope everything works out for you babe x feel free to inbox me if you want to talk xx

 

[katieelisexo]

Hey

I too had a high risk. I'm only 19 so was literally completely thrown when my results came back 1 in 26. My nuchal was 3.1mm but the consultant said that on its own was fine, but the AFP in my bloods was what was causing it to be so high risk.

I had the CVS and it came back normal. I've now got a happy little boy snoring away! lol

I can't relate too much as the scans I had showed no obvious abnormality but I did have a diagnostic test so I understand the difficulty in making that decision.

I hope everything turns out well for you.

xxx

 

[delilah]

hey everyone, just wanted to say thanks for the comments and support. 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! 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

 

[NinjaKitty]

I'm glad we could help . Let us know how you get on x


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[LYLLJellyTots]

Everything crosses for Monday Hun x I'm glad ARC helped you xx will be checking back in to see how you get on xxx hugs

 

[So_hopeful81]

Hope all goes well honey!
I hope that the hospital are calm and supportive about everything that they have to talk to you about.

I will say - as many know on here, I wa one of the girls on here who had a scan, was told there was a possible chromosome abnormality and went on to find out that I was carrying a little girl with DS.

At the time, an throughout much of the beginning of my pregnancy, this was frightening, upsetting at times and I questioned why me. Now I feel genuinely that I was blessed with my child. She is amazing and a complete celebrity within my town!

At times during my pregnancy I wish I could have seen myself at this point of her life and realised how happy we would all be as a family to put my mind at rest from all the questions and worry!

I know this probably won't make a difference to you t the moment. But just invade the news you hear is news that you wish you hadn't heard... Please remember that while at the time it seems like its the end of the world, it will all be ok!

Hope you're ok!
Good luck
Much love xxx


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[delilah]

hey so_hopefull, thanks so much for your reply. The more I've read up on downs the less scary a prospect it is becoming, I now know I will most definetly not risk an amniocentesis and will just continue to enjoy my pregnancy and try not to worry so much. If it turns out he has downs, then so be it, I will love him just the same and deal with any challenges or health issues it may bring one step at a time. I have to say, from what i can see of your photo, your little angel looks like a delight, i imagine you fell in love with her as soon as you laid eyes on her. lots of good wishes to you and thanks again x

 

[diane]

I was also in a similar position, but it was my 16 week bloods that gave me a risk of 1:22 which was very high for my age at the time (28). We uhmed and ahed for ages but eventually had the amnio. Not because of the risk of having ds, but for the patau and Edwards risk.

The fetal medicine unit were excellent with me, and scanned me numerous times even after the amnio. I really hope your unit are as great as mine were and wish you all the best Hun. It is true, it is a horrendous position to be put in. My lo doesn't have any of the issues we were faced with but I still can remember that horrible moment when we were told of the risk please keep us updated xxx

 

[delilah]

hey diane, im feeling positive about consultant meeting tomorrow although im not really sure what to expect them to say. I'm guessing they will reassess my risk factor now that they have found RPD and borderline nuchal fold. I'm trying to concentrate on my blood work being fine though, and nuchal fold is only borderline at 21 weeks pregnant, plus majority of RPD goes away before birth.

Although not knowing is emotionally painful, i know it wouldnt be nearly as emotionally painful as having an amnio and then miscarrying. So as im not opting for any invasive tests, i just want reassurance that my baby is going to be fine whatever happens. I'm hoping they will be able to put my mind at ease. My family friend works in the same womens hospital as where ive got my appointment, and she said my consultant tomorrow is lovely, so im feeling that everything will be fine! thanks for replying and im guessing your baby was born healthy? x

 

[So_hopeful81]

How dis the consultancy go today!?


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[LYLLJellyTots]

Yup checking back for an update xx hope all went well xxx

 

[delilah]

Hey ladies, sorry i didnt update last night, was very tired but all in all I'm feeling much more relaxed!

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 15 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

 

[precious_cargo]

Hi hun,
Only just seen this at 12w we had a nt measurement of 4.2 and a risk of 1:15 I was 28. We didnt have any invasive tests just regular scans with our consultant who was amazing! She scanned us looking for various markers. Whereabouts are u based hun? I found towards the end of the pregnancy quite stressful and anxious as I was unsure what our outcome was going to be. Big hugs x

Ella Faith 8/2/13 8lb 13.5 oz x

 

[Positive37]

hi just read your post and so sorry you are having to go through all this worry.
Just some reassurance for you we came back at 1:30 for downs and i was beside myself with worry. we opted for harmony test ( not that we could afford it) but because i am 39 and an IVF pregnancy the CVS was a no go, we came back all clear for downs, it is such a shame this test isnt avaialbe now for other ladies as it really would put minds at rest

i think your 1:200 is a really good i know your still going to worry but i hope u can enjoy the rest of your pregnancy.

I am due tomorrow and cant wait to meet my little girl

I worried a lot about baby but most times things are ok.

thinking of you and be lovely to see your labour thread xxxxxx

 

[NinjaKitty]

Hi, Im glad you've had more input now. FYI just to put the 1 in 200 chance into perspective. My first pregnancy came back a 1 in 230 mainly due to my age (37/38 at the time). 1 in 200 is less than a 1% chance of having a baby with chromosomal issues, in fact it's a fraction of a percent. AND my PCT only classes a pregnancy as high risk if the ratio is less than 1 in 150 xxx

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[delilah]

hey ladies, thanks for replies. percious cargo, i trust you baby got the all clear? im in liverpool! womens hospital here is nice enough, i havent had much personal experience with it except for seeing the consultant as im booked in with one to one midwives, who come out to you rather than you going to hospital. my sister hasnt had great experiences with the womens hospital though, she was overdue by 18 days but adimant she did not was to be induced, and they continually put pressure on her to cover their own backs, telling her if she didnt get induced that she would be responsible for the death of her baby. She could feel baby moving inside her so wasnt worried but was a stressful time with her constantly battling with her all the time.

positive37, very best wishes for your birth! just breath through your contractions and remember your body is built for this and is completely capable of having your baby without any problems so never doubt yourself! Visualise everything going the way you want it and I'm sure it will happen! Dont let the midwives strap you down and prod you and poke you, do whatever your body urges to do as it knows exactly what to do. lots of good vibes coming your way from me!

ninjakitty, im very happy with a 1 in 200 result, i really feel like ive come to terms with everything as well, whatever happens happens, theres no guaruntees that even if my baby is born healthy that something god forbid will happen in the future, being a mum comes with a lifetime of worry, but im sure it will all be worth it to see my little one grow up, im so excited to meet my baby, but hes still got at least 17 weeks of happy time growing in my womb first! xxx

 

[precious_cargo]

Yes hun after all the worry and tears she is healthy no chromosome issues. She does have a strange bum groove, asthma (undiagnosed due to age) and reflux. But compared to all the possible health implications I thank my lucky stars everyday! Our consultant was fab we live in Hull. If u ever need to chat pm me x

Ella Faith 8/2/13 8lb 13.5 oz x