Increased risk of Edwards and Pataus

[Liara1512]

Hello, Im just posting this and I feel so alone and have nobody to talk to that can relate to how I’m feeling right now.
I am 12 weeks and 4 days pregnant with my 2nd child. I went for my first scan at 11+6 weeks where I had the screening test done and sonography this found an increased NT measurement of 5.3mm. I was then sent for another scan with a consultant the following day where she explained to me there is a 1 in 3 chance of my baby having a chromosome abnormality. Today I received my blood test results via phone call from the hospital and they have now told me I am low risk for Down syndrome and high risk for Edwards and Patau. I am completely terrified I am 22 and didn’t even expect anything like this to happen. I just wondered if anybody had similar experiences they could share as right now I am completely confused and scared. I am booked in for an amniocentesis on the 25th and don’t know what to expect with that. Any replies would really help.

[KTD27]

Massive hand hold liara. Our experience was a little different in that our bloods and NT measurement were not high risk but I wasn’t happy with the levels of PappA so got a NIPT and subsequently was given very high chance of my baby having Edwards.
It was unfortunately the case that she did have Edwards which we finally had confirmed after a CVS test. I couldn’t have an amino as a particular membrane hadn’t yet fused and it was risky in case baby was healthy.
We had a termination surgically at around 18 weeks and it was one of the hardest days of my life.
I know how utterly terrifying and lonely it is. Please consider calling the ARC their helpline is AMAZING and they’re so kind and totally knowledgable.
Remember that your odds are just that - odds. Baby could still be absolutely fine and I hope that they are.
Deep breaths and take things a day at a time. Xx here if you want to PM me

[Littlebelina]

What were the actual risk factors for edwards\patau. Remember even 1in 3 means there is a 66% chance your baby doesn't have the syndrome.

I have had an amnio (due to heart condition). It was not a nice experience but nowhere near as bad as I feared. They do a detailed scan and have the baby on screen as they insert the needle so they can see where they are going (but you don't have to watch). Needle didn't hurt really just smarted a bit (and I had some period type cramps). You need to rest for a couple of days afterwards so book time off work if need be. The miscarriage risk tends to be lower than the 1% quoted, esp with a experienced doctor. Results for Edwards\patau\downs came back in about 3 days. Full karotype (looking for rarer stuff took 2 weeks). I did have to chase them so be aware (but I was close to 24 weeks).

Have you been offered a NIPT (non invasive screening which is more accurate that nt test but still not 100% esp for pataus and Edwards) or has the consultant advised to go straight to amnio (which is accurate)

[Liara1512]

KTD27 thankyou so much for replying and sharing your experience, I’m so sorry to hear the news of your little girl and I think I’m definitely going to contact the ARC, I’ve heard so many positive things about them. Thankyou so so much.

[Liara1512]

Littlebelina thankyou for your reply. I am honestly so confused and not even sure what the risk factors are as I was told there are no physical anomalies at this stage judging by the scan. I wasn’t told the actual results of the hormones or anything from my bloods only that with the NT scan and blood test combined it has shown a lower chance for Down syndrome and higher risk for Edwards and patau. Thankyou for sharing your experience of your amino, it’s made me feel a little more at ease about having it. I haven’t been offered a NIPT, my consultant advised the amniocentesis and ruled out the CVS as it showed on the scan that I had already been bleeding so she didn’t want to carry that out.

[KTD27]

Liara I’m not sure of your financial situation but we had ours done privately as the hospital I was under only offered them to high risk women which I wasn’t. If you can afford it they’re done very quickly with no risk to the baby and take about a week to come in. If the odds suggest baby is chromosomally normal the amnio is very likely to agree - same the other way unfortunately. It isn’t classed as a diagnostic test though for Edwards and patau so you may want the amnio aswell for peace of mind but if you can afford it it might get you results a bit quicker?

[Littlebelina]

KTD point is a good one, some private scanning places do the NIPT now and you should get the results before your amnio. It's thought to be 99% accurate for downs but think it drops to mid to low 90% for the other 2. We had it done for dd1 before we knew about the heart issue (as the NHS were messing around with the date for the nt) and got the results back in about 2 weeks (a little less maybe). In the end dd1s issues look like they weren't chromosome related so we just went with std screening for dd2. It was about £400. I thought it was supposed to be rolled out on the NHS for high risk women by now but not sure it has been in all trusts.

[Littlebelina]

No physical anomalies is a good sign though (although some might not be apparent until later scans)

[Liara1512]

Thankyou both for the information and advise on the tests, I think I’m gunna wait out for the amnio and just take it as it comes I can’t thank you enough for replying and just offering me support and advise.

[KTD27]

Not a problem. I’ll be thinking of you - make sure you check back in and tell us how you’re getting on

[Liara1512]

Thankyou and I deffo will will the results of the amnio X

[anniehm]

Please be aware they tell you the worst case scenario - as we found, ultrasound isn't perfect, we were told a potentially serious abnormality but nothing was wrong. Hope this is the case for you too

[gambaspilpil]

I had a 1:36 chance with DS2 and he was fine but did have the CVS procedure. Another pregnancy there was issues with the heart seen on scan and my risk was 1:2 and yes the little one had confirmed DS with a CVS and I ended up having a huge bleed and lost the pregnancy , my last DS I was 1:4 risk of DS, 1:7 and 1:9 with the others and I had a CVS again and he is perfect. You will hear positive stories and negative on here. Just wait for your test and I hope you get positive news.

[Liara1512]

Anniehm yeah I suppose that’s true it’s just hard to not think of the possibility and gambaspilpil so sorry to hear that, and yes that’s definitely true I’m trying my best to remain positive, it just feels like I’m waiting a lifetime for the amnio. Thankyou both.

[Abouttimemum]

Hello, OP I’m so sorry you are going thorough this, it is absolutely terrifying and confusing.

Our 12 week scan testing actually came back low risk, including a 1 in 28,000 chance of Edwards and Patau. The sonographer actually picked up something on the baby’s facial profile during the scan which concerned her. We went back at 14 weeks to see a specialist, and the nuchal fluid had doubled and there was issues with the baby’s heart and bowels. We had a cvs which did actually confirm Patau syndrome. The bottom dropped out of our world. We’d been trying for this little one for almost 18 months. I had a termination at 16 weeks. It was the hardest day of my life and I would echo pp comment about contacting ARC as they were amazing.

I completely understand how you feel and it’s almost impossible to function with this hanging over you. I would take some deep breaths and try to focus day by day. Prepare for the worst outcome just in case. I will say that those results don’t necessarily mean your baby definitely has the condition. Ours actually was low risk and it did have the condition - we actually were the one in the 28,000.

Good luck and lots of love xxx

[Georgia1512]

Abouttimemum
Thankyou for sharing your experience I’m so sorry to hear about it, i can only imagine what a hard decision it is to make as I’ve thought about my options too since finding out my odds. I’m just trying to remain positive until I have my amnio but it’s always on my mind that I have this 1:3 chance. I’ve never met anybody who has been through the same thing so it’s so comforting to hear ladies like yourself sharing experiences with me and just making me feel less alone. I really wish the best for you in the future xx

[Abouttimemum]

Hi Georgia, how are you doing? When is your amnio?

It’s a truly hideous time. And very lonely, as it’s just not something that people talk about. Or understand.

As it happens a year after we went through that I fell pregnant a second time and I’m now 33 weeks. This one has its own issues (why is nothing ever easy!!?!) but hopefully baby is ok and there is light at the end of the tunnel.

But the whole experience with our first baby took a little piece of me away that I’ll never get back. Lots of love to you xx

[Georgia1512]

Abouttimemum hey I’m doing ok just trying to remain positive. My amnio is on the 25th of this month so just over a week to go. And you’re right I feel as though nobody wants to talk about it with it being such a sensitive subject. Congratulations that’s lovely news I hope baby is healthy and well all the best with the rest of your pregnancy.

[KTD27]

Hi Georgia. How are you getting on? Thinking of you

[Georgia1512]

@KTD27. Hey, I’m alright, very nervous for Monday for my amnio as i don’t really know what to expect, still very nervous about the results and I seem to have convinced my self that the baby is gunna have one of the trisomies wether that’s my gut telling me it is or I’m just preparing for the worst I don’t know all I know is that I can’t wait for the end of next week to come so hopefully I have some answers. Thankyou so much for asking. X

[KTD27]

Well if it’s like my CVS they did a scan then used a needle to take some fluid. Scanned me throughout and afterwards monitored me for a wee while. I believe the risk to the baby is from doing the procedure so if there isn’t an issue once they’ve finished all should be well but don’t quote me.
It’s the waiting which is worst so get a clear picture from them about how long to wait before results and perhaps they’ll be able to rule things in or out from the scan? Not in my case unfortunately but it may be worth asking

[Georgia1512]

Thankyou, that’s very helpful yes I will definitely be asking if they can give me a rough date of when I’ll find out. I think I’m gunna be a nervous mess all next week but I suppose all I can do is hope for the best

[KTD27]

Good luck tomorrow

[Georgia1512]

@KTD27 thankyou I’m having it at half 9, I’ll post an update after xx

[Georgia1512]

I’ve had my amnio and just wanted to know if anybody has been in the same situation as me, the amnio procedure itself wasn’t half as bad as I expected to be, but before the amnio when they scanned the baby, they noticed cysts on the brain and the baby also had clinched fists. Both of these are commonly found in trisomy 18. I am terrified and really do believe my baby is going to have Edwards syndrome, I just want to know if anybody has had those symptoms found in there babies but the baby turn out to be ok?

[KTD27]

Ahh Georgia I’m sorry. You must be out of your mind. I’m hoping someone can give you a ray of hope but from me have a hug xx