High risk for Edwards, Patau's and Down's syndromes

[Mummy2O]

I had a call from the screening team at the hospital today to say I have a 1 in 22 chance of Downs and a 1 in 9 chance of Edwards and Patau's syndrome.

I am scared stiff. I have opted to have a CVS. Can anyone tell me what to expect or offer me any reassurances. The statistics are feeling very overwhelming at the moment.

I had a missed miscarriage in Oct 2019 and this is our first pregnancy since, so this is playing on my mind. I also have a 4 year old.

@mummy20 all the best for the amnio test. Hope you get some rest over the weekend.

Hi Ladies...

Hope you're all doing okay.

I don't know where to start really! I've never used forums before but I'm in desperate need of some support..

I'm 11weeks+6days Pregnant with my first baby (conceived via IVF/ICSI as my partner has poor morphology) and I went for my 12 week scan yesterday where they told me my NT measurement was around 4.5mm, they did struggle as baby wasn't in the best position and even got a measurement of 3.1.. but apparently as it averaged over 3.5 I've been told baby is high risk of a chromosomal abnormality... I had the blood test and I'm now waiting for the call this afternoon to tell me just how likely this all is...

They mentioned CVS and amniocentesis and also the NIPT test which we can do privately through our IVF clinic. I think if the chance is confirmed as high this morning we will go ahead and book the NIPT asap as a second opinion before we go for an invasive test.

I'm only 27 so hoping if my age and bloods are in my favour then they may decide I'm a lower risk than they first thought but they did seem pretty convinced that with the NT measurement I'm high risk...

Feeling really beside myself and struggling a lot emotionally right now.. after going through IVF and having the amazing news that it worked this new worry has really knocked the wind out of me..

@HopefulMummy2BabyGreen I am so sorry you are going through this. 3.5 is on the border line of normal. I would recommend the NIPT test. It gives you a far better indication of what is going on than the combined screening tests. Depending on where you live, if the screening tests do indicate risk you may be able to have it on the NHS. The Arc website is really good for explaining your options - www.arc-uk.org/tests-explained along with the NHS website www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-downs-edwards-pataus-syndrome/ and although Wales specific this booklet is very good. phw.nhs.wales/services-and-teams/screening/antenatal-screening-wales/antenatal-screening-tests/antenatal-screening-test-leaflet/

Remember, high risk does not mean there is anything wrong, it is just outlining the chance of it. Try to focus on that.

Ps. Little projects to keep your mind occupied are a godsend whilst waiting for your results.

@Mummy2O
Thank you so much for replying so soon.

Yes you are completely right this is just a precursor to a potential problem. They were just so doom and gloom yesterday I'm finding it so hard to imagine baby will be okay.. I'm also feeling very overwhelmed at the thought of further testing and potentially awful decisions because honestly I don't know what I'd choose.. we oorlted for the NT test as they just said it was recommended and we never imagined actually having something come of it.

We are thinking about going for an NIPT to get the second opinion and a clearer idea, I was just worried that as it only gives percentages or ratios that it would be so similar to the combined test and therefore a potential waste of £450 as in England it's not offered unless private...

I hope you're doing okay ♥️

@HopefulMummy2BabyGreen That was my concern too and why I opted for the amniocentesis in the end. I just couldn't settle.

The NIPT test is far better than the screening blood tests. It looks at actual fetal DNA rather than just making a calculated guess. If your screening doesn't come back high risk, it could be worth it to further put your mind at rest.

I hope you get your results quickly this afternoon. I will be thinking of you.

@Mummy2O

Yes hoping they call soon. I've emailed ARC the charity just to ask if they can give me any further advice and the reply was lovely but as always it circles back to if you as a parent want to know then go for the further testing... She did say that based on my NT alone it is likely I'll be put in the high risk bracket of more likely that 1 in 150 even if my age and bloods aren't a negative factor... But then she said that some babies can have higher NT measurements and be totally fine! As seen in this thread... So it does feel like the combined test is a bit of guess work. It's just all so heart wrenchingly worrying

Sending you lots of love. I know exactly how you feel. x

@Mummy2O

Thank you.

I just had my results call.. bloods appeared within normal readings (and I'm only just 27) but I have been given a greater than 1 in 4 chance of baby having down syndrome and a 1 in 1811 chance of baby having e or p syndrome (low risk).

The screening midwife said that in practicality we can read the result as a 50/50 chance that baby will have DS...

I really don't know where to go from here. I expected a high chance but never expected such a low number based on the NT measurement alone.

@HopefulMummy2BabyGreen I am so sorry your results were higher than hoped for. Further investigation will be needed to determine exactly what is going on, but you don't have to. Have they discussed the options with you? You don't have to decide right away. Give yourself a bit of time to think things over.

@Mummy2O

They've offered a CVS or amniocentesis and also said I can go privately for an NIPT but an NIPT is again only a more accurate screening test and not a diagnostic test..

We are thinking of having an NIPT then if that again confirms high risk carrying on with a CVS or amnio because I don't know if I could not know...

I felt the same way. I want to know. You can plan and research if you know.

I've had the results from my amniocentesis and all is thankfully well.

How are you doing@HopefulMummy2BabyGreen?

@Mummy2O great news x

Bit of a different perspective.

When mine was born they questioned DS and we had to have a 2 day old baby tested and wait 10 days for the results.
Thankfully no DS but it put a massive cloud of worry over those first couple of weeks.

If I'd have known possible DS I feel I'd have been prepared but my 12 week results were all very low.

Ttc second and I'd definitely have further tests.

Good luck everyone.

@HopefulMummy2BabyGreen I'm so sorry to hear that you are going through this bad experience, but can you please tell us what you decided? NIPT or CVS. And if yes, what was the result? Please, if you don't mind.

Hi everyone,

Firstly I just want to say thank you to everyone who has posted so far, this thread has been a lifeline over the last couple of days.
I’m 34 and 13 weeks pregnant (first time mum) and had my first NHS scan and screening last week. On Monday I got the news that baby has a 1:11 chance of having DS. I was in shock - all the numbers I’d seen before this had been in the thousands.
From what I can remember (it was an emotional phone call!), I was told that my papp a is low (0.5 I think), and my HGC is high (perhaps 3?!). She said this will be the reason that my risk is so high, as my scan was absolutely fine at the NT measurement wasn’t a concern.
After some advice from a friend’s uncle who happens to specialise in this area, we opted for an NIPT. We had this yesterday, and now I have to wait 7 long days for the results.
The two things I’m holding onto are the fact that 1:11 still means that baby has over 90% chance of being healthy, and that our scans have been perfectly fine, no markers at all.
Fingers crossed that my bloods are just crazy. Regardless, this will be the longest wait of my life, and I feel for any parents going through the same.

Hi there, please try not to worry and you did the right thing in getting the Nipt! It's very accurate and reassuring. You papa-a is low but this could be normal for your pregnancy and your hcg could be normal for you. We all house our babies different and all have different levels of hormones. Very good that baby's nuchal translucenty is good so try to think positive. Ladies on hear have had 1/2 chance of Down's syndrome and have been fine. Keep us posted. Best of luck x

@Southsea34 The wait is just horrible. Try and find some way of distracting yourself.

I am keeping everything crossed for you.

@Southsea34
Hi, I don't think you should worry at all, your PAPP-A wasn't very low, under 0.5 MoM is considered low and for you HCG level it is a bit high but not as much as mine, I had 8.69 MoM.
Let me tell you a little bit about my experience maybe it will help you:
I had my screening test on the 1st of March, 2 days later I've received a call from the screening results Midwife telling me that my risk for T13 and T18 was 1in 100000 but for T21 it was 1in 16. I felt that my world has come to an end as I wasn't expecting anything like that . This is my 3th pregnancy and I had 2 healthy children before and my risk has been always very very low. But This time it was because of my extremely high bHCG. This was my results:
The dating scan found that I was much ahead than expected 14+1
CRL 83.6
NT 3.1mm MoM 1.59
bHCG 185.0 IU/L MoM 8.69
PAPP-A 7684 mIU/L MoM 1.47
I went the next day to the hospital to meet the Midwife and discuss the options they will give me.
I had to choose between CVS and NIPT. As CVS has 1% of miscarriage and didn't have the courage to go for it so I chose the NIPT instead. I was the longest week of my life. Yesterday I've received a call from the same Midwife telling me that my risk went from 1 in 16 all the way down to 1 in 10000. I can't tell you how relieved I felt, I couldn't believe as my HCG was extremely high, 8 times what it should be!!! I've asked her if I still need to consider Amnio to be 100% sure, she said "I don't really think that you should put your pregnancy at risk, you will kick yourself if something happens to your healthy baby" and I was convinced 😉. Plus if I had 1 in 10000 risk from the NHS screening, I wouldn't even think about taking further tests, and NIPT is muuuuuch accurate than the first screening. I didn't even know the CVS or NIPT or Amnio existed before last week.
I hope my story will help you to stay positive and please don't worry, you will definitely get good news 😊 xx

Thanks everyone for your kind and reassuring words.
@Mummy825 your story has made me feel much better, thank you. So glad you got that amazing news yesterday.
I'm waiting for my initial blood test results to arrive in the post but I just seem to remember the midwife telling me that my papp-a was half what it should be and my HGC is double. I'm confused at why just those factors made my risk shoot up to 1:11 I'm 34 so I don't think age is too much of an issue?!
Rather than over analyse everything, all I can do is patiently wait and hold onto these positive experiences I'm seeing from other mums!
Thanks again xx

Hi all,

A bit of a frustrating update from me unfortunately.
Firstly, I got my results wrong in my last post. PappA is 0.35
HGC is 3.26
NT is 2.10 (this wasn't flagged, but after doing my research it looks as though it's on the high side?!)

I had my NIPT last Tuesday, and have had a very anxious wait. I've been going out of my mind, only to receive an email today saying the first sample was unsuccessful and they were unable to get a result. They are now going to try my second sample, so that's another 5 working day wait. After all of that anticipation, I cried a lot! I'm just so done with waiting.

When I gathered myself, I thought the best thing to do was to get an Amnio booked. I'm over 14 weeks now, so only have to wait just under 2 weeks to fit in the amnio window. It's booked for 6th April.
This way, if the second sample is also inconclusive (to be honest, I can't see how it would be more successful than the first, considering they were taken at the same time?!) I won't need to risk the long wait again if they want a second draw for NIPT.
The midwife said I can cancel my amnio if the best scenario happens and my second sample comes back clear. I've never wished for anything more.

Ugh. This is truly excruciating.
xx

@Southsea34

My story is very similar to yours. I had a 1 in 13 chance of Downs syndrome. 0.37 pappa, 2 hcg and 2.5 nt. I opted for NIPT too and my first sample also failed. I had to give another sample and was told to wait another 2 weeks. It was horrendous. I too booked an amnio and was all set to have it done. Thankfully my second redraw worked and my pregnancy was then low risk. I cancelled the amnio.
Hang in there.... The waiting is the worst bit but you're nearly there. I can't tell you how much lighter I felt when it was all over.
Good luck x

@Liveforholidays thank you for messaging - your story is so reassuring to me.
I honestly feel like I've hit breaking point this week, this wait is just exhausting.
Your post has given me hope though, and I really appreciate it xx

Did they tell you why your first sample failed? I'm assuming mine is BMI related, even though I never saw myself as obese, apparently my BMI says I am! I heard that can affect the results?

@Southsea34 I opted for an amnio in the end. It really wasn't as bad as I feared. I just didn't look and tried to think of anything else whilst it was happening. It helped me to get closure on the situation.