1/150 chance of Ds advice needed please

[Chloeg94]

Hi ladies,

Please can you offer me some non judgmental advice and support ? ☹️ I am a first time mum and 27 years old my pregnancy was a surprise but the biggest blessing. I am currently 15 weeks pregnant and had the quad test for DS on Wednesday. Received a call from the hospital today to say that my results came back that I am high risk and I have a 1/150 chance. I am very upset and shocked as due to my age I wasn’t expecting this and everyone told me not to worry about doing bloods as it would come back with nothing. I have an appointment at the hospital tomorrow to discuss my options however I have read that the diagnosis tests risk miscarriage.

The baby’s father is a Doctor but has provided no support since finding out I’m pregnant and I have had quite bad anxiety due to this and feel like I’ve let my baby down. I currently live with my sister and have a supportive family but I am so worried now. ☹️ Has anyone had the tests or been given a higher result at my age. I am British but my partner is Iraqi origin would appreciate any advice or kind words.

I came back with similar result when carrying dc1 ( 1/125 I think) and she was not born with DS. I was 23 years old , have no idea why that happened. At the time I thought of it as still 124/125 chances of being fine, if that makes sense. Try not to worry.

You can opt to have a NIPT test which carries no risk and is a simple blood test, but far more accurate than the nhs combined or quad tests.

It is obviously not diagnostic so won’t confirm 100% that your baby does or does not have a trisomy, but will give you a better picture and then from that result you can then decide whether or not to proceed with further invasive testing such as amnio or cvs.

Good luck, try to remember in actual fact a 1:150 result is still extremely low risk.

You have got a few things going on here. Unsupportive partner will be making this feel worse as you don't have someone to lean on.

I had a similar quad result. I chose to have the harmony test rather than amnio. My little boy is nearly 1 now and perfectly healthy.

99.25% chance your baby is fine.

Call ARC. And take care of yourself.

Thank you all for your advice, I am thinking about the NIPT test as I am concerned by the risk of miscarriage from the invasive tests and would want to avoid that.

99.25% makes it sound a lot less scary!

Mine came back in 1:20 for downs I had an amniocentesis as there the most reliable and test for a range of conditions. Mine came back clear for downs and all others checked. They should refer you to a specialist fetal medicine unit to do a scan and talk through your testing options.

I’ve had six miscarriages before this pregnancy and when they explained the risk of miscarriage which is really low it was worth the test for my peace of mind.

Highly recommend the harmony test. Results in a week. And while not diagnostic it is highly accurate.

I had initial results of 1:5. Harmony came back 1:10,000

Dd did not have any issues when born.

@Absc So sorry to hear about your miscarriages! I think it is because I am an anxious person that I’m worried about the risk so it’s reassuring to hear your kind words and experience.

@MadeForThis I am swaying towards the Harmony test not sure if they do it at my hospital but I will ask about it! I am just sure that either way I will love the baby absolutely unconditionally it would just be to plan ahead. How long is the wait for the results?

Sorry I forgot to mention when I spoke to the Nurse again she confirmed it was 1:101 I asked her why it was so high for my age and weight she said it was due to my hormone levels

Harmony test all the way.
It’s not diagnostic as PPs have confirmed but it is as close as you can get without amnio.
It usually takes about 5-7 days to get your results back, by which time you’ll still be probably waiting on seeing your NHS consultant.
The odds are in your favour in terms of risk OP, even though it does feel a high figure.
Best of luck

Hi OP. We’ve recently been in a similar situation of a 1:80 risk of DS and 1:200 of Edwards and patau. Our trust was brilliant. We got to see a screening midwife who ran through why our risks were so high - low beta HCG and low PAPPA gave us increased risk for all three trisomies. We decided to have an NIPT test (harmony and Iona are brand names for example) first to see what that showed as I was anxious at the (albeit) small risk of miscarriage for the CVS and amino. Our plan if the NIPT was high risk was to then look at a more invasive test as to be clear the NIPT test is not a diagnostic test like the others. It came back as 1:10000 chance of all three. We’re just keeping our fingers crossed til our 20 week scan as I’m anxious!! Happy to answer any questions
Oh most trusts have a link to the NIPT tests, some even do it for free if you come back as high risk so worth checking. We had ours done in the hospital by our screening midwife but paid £275 for it.

Hi OP - we had similar with a 1/70 risk based on bloods at 14 weeks (as the 12 week scan was late). Does the timing of your test mean it was based on bloods only and not nuchal? If so, this makes it a lot less accurate. They never explained this to us, which was frustrating (we found it out from our own research).

We chose to have the further blood test anyway, and this came back as 1 in 100,000. It took 5 days for the results to come back and was definitely worth it for us, as no risk to the baby.

Wishing you all the best.

Hi @Wibblewobble99 Glad to hear your NIPT results came back ok! I have an appointment today to ask any questions about further tests I think it’s my age being 27 that’s worrying me and not having a partner there to support me makes it hard and confusing ☹️ I am sure the wait will be extremely difficult and have booked some time off work but hopefully they can arrange the test quickly!

@Shamoo I had the quad test at 15 weeks because my baby was being cheeky on the scan and didn’t want to change position! They moved slightly when the Sonographer suggested I ate some chocolate but she gave up and said it was the most difficult scan she’s had to do. So it wasn’t based on Nuchal I don’t think just that my hormone levels are off. I will definitely ask about this blood test due to the low risk.

Good luck today @Chloeg94. They did our blood test then and there once we’d decided what we wanted to do. We had it on the Tuesday and had the results by the Friday as ours only went to Manchester. Wish I’d taken some time off to process it all as I spent best part of a week coasting at work and still trying to catch up now thinking of you x

Update - I had my appointment and the Midwife was lovely and spoke about my options. She mentioned that my HCG levels were high which is what flagged it up as high risk. I opted for the NIPT test and she said they could do it there and then which was around £275 but wasn’t invoiced then. Slightly hurt and test will be sent off on Monday so I have over a two week wait. Going to spend the weekend will my mum and try not to worry x

How did you get on op? I hope you got a negative result x

Hi! I forgot to update, my NIPT came back as very low chance x

Congratulations!!!!

I'd recommend the NIPT. I paid for it myself at 10 weeks due to my age and it was £400 well spent for the stress it may have saved me from.

A good friend was told at 20week scan that they were 95% sure her DD had Edwards syndrome, she had an amniocentesis which caused an infection and she went on to labour and had her DD at 25weeks. Her DD had no chromosomal abnormalities but has the longterm problems associated with extreme prematurity.

I personally would never have an amnio for chromosomal abnormality diagnosis without an NIPT first, why risk it.

Cross posted

Good decision and brilliant news. Congratulations.