Help!! High screening test for DS

[leah3]

Hi all! New to this!

So I'm 13w1d pregnant with a baby I've been sooo desperate for, following a miscarriage. Had my 12 week scan, everything was great! Baby was very active and NT measurement was 1.5mm which she said looked great. She said as far as the ultrasound, everything looks great. Fast forward 6 days, I get a call saying I am high risk for DS (1 in 25!!) I'm 26 Y/O. I am TERRIFIED!! I know it means 4% chance which seems low but I am so worried and can't stop shaking. Having an NIPT test done tonight (3 - 5 working day turnaround). Midwife also mentioned low PAPP-A result but not sure exactly what the measurement was. Anyone had a similar experience?

Funnily enough, when my mum was pregnant with me, I was high risk (1 in 26) and turned out fine but I just can't stop worrying.

Hi OP, please wait for the NIPT results, hoping that they are all ok, but this happened to a few people in my due date group, where the NT or other tests categorised them as high risk, then the NIPT resolved everything as actually ok. Hoping you get the same outcome, and at least you should know this week.

This happened to me NT was 1.5 but low PAPP-A made me high risk. NIPT came back low risk. PAPP-A is to do with blood flow to the placenta. I've got an appointment with the consultant after my 20 week scan as it can lead to problems with growth but my letter says that often it doesn't. I'll be offered extra scans just to monitor. I know its easier said than done but try not to worry. Midwife told me the combined screening isn't very accurate or personal, NIPT is 98-99% accurate. Best of luck!

Low PAPPA in nhs England is below 0.41 if it's a MoM value. A value of 1 is the national median but it's only a c

Oops.
It's only a concern if below 0.41. The advice is to take 150mg asprin nightly and you'll have extra scans. I imagine your consultant will be able to advise in more detail. But hopefully as pp says it will be easily managed and nipt will reassure you.

Thank you for your replies. I am honestly so scared, currently waiting to do my NIPT as we speak. Hoping I’m one of the lucky ones!

As the others have said, NIPT is much more accurate so please try to ignore what you've been told so far - I do appreciate it's hard though. I wish they'd stop messing around with the combined screening tests and give everyone NIPT. It would save so much worry.

@nee22 I do find the implication of low Papp-A interesting because they don't measure it at all if you opt out of the combined screening (if e.g. you've already done NIPT privately) so they can't be that bothered about knowing the value for all women 🤔

I had a 1/9 chance of Downs with DD, also due largely to low papp-a (and a much wanted baby after a miscarriage). I know how scary it is, but please try not to panic - she is fine and healthy and I hope your baby will be too

Thank you both. I appreciate everyone for replying. I’ve just had my NIPT done and drove home in tears. I’m so worried, feel like I can’t catch a break! It’s the waiting that going to kill me! Only good thing is I got to see my rainbow baby moving around on the scan again. I just desperately hope everything’s ok 😢

@UnspeakableBode hey hun, sorry, I really hope you don’t mind me asking but would you mind sharing what your screening test result was? Was it 1 in 25 also? Thank you

Anyone else been through this? 😔

I'm the same age as you and had the same NT measurement and had a high risk result due to my bloods. My papp-a was low and HCG high. My risk wasn't quite as high as yours (1:120) but it still worried me so much. I have had a NIPT and everything is now low risk and I feel such a sense of relief.

Hang on in there - I must've read hundreds of positive stories. Hope you get the news soon xx

I had a 1:30 chance of downs. Ds just turned two and is perfectly healthy. I assumed the worst and the wait for the nipt results was awful, but you have a 75% chance of it being ok.

I had 1/26 chance at my 12 week scan.
the NT measurement was 3.6 and my papp-a was 0.67.

I also had the NIPT and it came back low risk, I’m now 27 weeks and all looks good.

I hope it all works out for you, I know how worrying the wait is. Keep us updated xx

Thank you all, I am so grateful for the replies. I’m honestly going out of my mind. So frustrating a weekend and a May bank holiday falls in between my waiting time so won’t count as days 😢

A high chance screening must have been such a shock, and you need to give yourself a chance to process it, but everything will be ok - more than ok! As others have said, you still have a greater chance of not having a child with Down’s syndrome, but if you do, you become one of the “lucky few”…it will be a slightly different journey to what you expected, but your child will be amazing.

We had a postnatal diagnosis of my daughter, the consultant reeled out a list of potential medical complications (none of which she has) and things felt all very scary. Fast forward nearly 7 years, my daughter is amazing. She’s in year 1 at mainstream school, enjoys cooking, swimming and gymnastics, can count, knows the alphabet and can retell great stories. She’s a fab big sister and is the best thing that has happened to us.

Do have a look at the parent support pages on www.downs-syndrome.org.uk/about-downs-syndrome/pregnancy-and-baby/looking-forward-to-your-baby-2/ - there is also a section there on local support groups. www.positiveaboutdownsyndrome.co.uk has stories and experiences from a range of family members, and PADS also has some great Facebook groups.

Congratulations and good luck - wherever your journey takes you from here 💐

@curliegirlie thank you so much for taking the time to reply. Truly do appreciate it. Your daughter is absolutely beautiful and definitely is a blessing! 🤍

@curliegirlie so nice to see someone posting positively about downs. I'm 25 weeks a said to my husband I would not abort for downs. It seems to scare people so much.

I work with special needs kids and don't see downs as a reason to abort. I've worked with kids with autism where parents can't cope. But there isn't a option to screen for that.

I agree in screening for conditions where the baby will have no quality of life. If we had a baby with ptaus (not sure how it's spelt) or Edwards syndrome we would have aborted.

Totally understand but we all have different situations and only we know what’s right for ourselves. Personally, I am devastated by the news, especially with it being my first child, I just want everything to be ok

Oh @leah3 it will be ok, but I completely understand the fear. Despite the crappy way my daughter’s diagnosis was delivered I’m actually glad it was postnatal. I knew nothing about DS back then and I’m not sure what I’d have done. I hope the info I signposted above has been useful and even reassuring and will help you make a more informed choice, whatever you decide to do in the end.

Actually I think the first child having Down’s syndrome has its advantages- when she was little, I had nothing to compare Cara’s progress towards milestones with, so I think it made me a lot more relaxed about her taking things at her own pace. In contrast, her little sister crawled at 6 months, took her first steps just shy of 11 months etc - if that was my ‘norm’ when I had Cara I think I might have found it a bit more difficult. Take care and be kind to yourself x

Say the screening comes back with low risk you can never guarantee ok. Autism, ADHD, other genetic disorders don't generally get picked up until years after birth.

@LifeIsBusy yeah I understand that, but if they physically can’t test for that while pregnant then you have no choice but to be wait and see. However if you find out about potential conditions while pregnant, you’re able to make a choice on what you want to do.

@curliegirlie yes you definitely did, I appreciate you sharing your story and taking the time to reply. Thank you for the no judgement 🙌🏽

Just thought I would update in case anyone comes across this, in a similar position. My results came back all clear‼️‼️‼️

Great news, congratulations and enjoy the rest of your pregnancy!

@curliegirlie thank u so much 🤍