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High NT, reverse flow Ductus Venosus and mild Pyelectasis

(9 Posts)
CyrilSneer30 Sun 26-Jun-16 10:12:11

Hi all,

This is my first ever post on mumsnet, but I have been trawling the boards to see if anyone has been in the same situation as myself.

I'm 29 and have a healthy 16 month old son, currently 13.5 weeks pregnant with DC2. Almost skipped along to my 12 week scan last week at 12+5, naively thinking that it wouldn't be long until my husband and I could announce our pregnancy! We are based in Germany with the armed forces and my husband is currently away, so ended up going alone. The consultant spent a long time scanning but didn't indicate in the slightest he saw any problems - at the end of the scan he was pointing out hands/feet etc to me, and it was only when I sat down afterwards with him that he said he'd come across several problems. The NT measured 2.9mm which is >99% centile for CRL, there was a reverse A Wave in the Ductus Venosus and he also found mild Pyelectasis (swelling in kidneys). Typical German manner just set out in facts (and seemed surprised when I burst into tears - felt like I'd been punched in the stomach!) and stated that I was currently 1:10 risk for Trisomy 21 and 1:41 for Trisomys 13/18. After a horrendous evening (and arranging for my mum to fly out the next day - everyone needs their mum in these situations!) he called the next day to say my bloods were good - didn't give me any figures - and my risk has been reduced to 1:377 for T21 and 1:810 for T13/18.

I went for CVS Friday morning which genuinely was nowhere near as awful as I would have thought, and am currently in a few days of hell waiting for the results. I know my risk has been reduced a lot given my blood results, but I'm fairly sure I've read every research paper online and it seems the combination of markers at my scan doesn't give a good result. Has anyone had the same markers and what were the results?! I've come across lots of threads with people having one or the other with a good result, but not all. I know nothing will change the outcome, it's just not something I ever thought I would have to deal with! My husband and I have already decided that if our baby is diagnosed as having Downs we will be keeping him/her, especially as the consultant stated there are no major organ defects he could see so we can be assured it'll be relatively 'healthy'. This isn't to say I wouldn't be in complete shock if he calls tomorrow to say it is. Does anyone have any advice? So sorry for rambling, I just think the waiting is driving me round the bend.

Thank you!

CyrilSneer30 Mon 27-Jun-16 18:34:03

Just in case anyone comes across this thread during obsessive googling like mine - I had the initial CVS results today and all good 😊 Still have the long term cultures to come back in 2 weeks but the consultant is fairly certain nothing new will appear as there are no signs of anything else, his main concern was Down Syndrome which has obviously now been ruled out. Just thought I would post while I remembered!

Northernlurker Mon 27-Jun-16 18:42:36

Sorry you didn't get an answer to your first post. That's excellent news re the CVS. Just shows you how 'soft markers' can be something or nothing. Wishing you well for the rest of your pregnancy smile

ASAS Mon 27-Jun-16 18:51:14

Hello Cyril,

Firstly, congratulations.

Secondly, my first post on MN was similar. 3 soft markers. Utter terror at the unknown. DS is now 4 and fine, he's just had 2 desserts and is getting ready to tell me he isn't tired!

CyrilSneer30 Mon 27-Jun-16 19:09:23

ASAS and Northernlurker, thank you so much for replying! I was genuinely terrified, but as awful as those few days waiting were it really helped me get into a good place in my head about a Down Syndrome diagnosis. Here's hoping for a stress free rest of pregnancy (if there is such a thing!)

ASAS Mon 27-Jun-16 20:53:34

When does your mum arrive?

CyrilSneer30 Mon 27-Jun-16 21:13:00

ASAS, she arrived the day after my scan last week and is here until Wednesday! Can't beat your mum for stressful situations, she's been fantastic. Thankfully we also have a family holiday booked for next week which is definitely coming at the right time!

CyrilSneer30 Sat 23-Jul-16 06:42:45

Just another update for anyone who finds this thread (I know from hours of searching how frustrating it is to not find the outcome of someone in a similar position!) full cultures came back all clear, had a foetal cardiac scan this week (17 weeks) as the DV negative A wave can be indicative of a heart problem - and the heart is absolutely fine. Amazingly they also found another marker for T18, 2 choroid plexus cysts in the brain, that he said will clear up by week 24 and mean nothing except being a marker. Can't believe this baby can have so many markers of a problem and be completely healthy! Just a bit of reassurance.

DifficultSituation999 Sat 23-Jul-16 15:22:45

Wow! Fantastic news!!! Hopefully you can now start to enjoy the rest of your pregnancy.

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