Pregnancy screening handhold/ advice

[Worriedallthetime123]

Looking for reassurance / advice as I had the NHS screening and it has come back with a ‘increased risk for downs syndrome’ around 1:60. I am confused as the scan was ok and sonographer raised no concerns, my blood work is within normal range. My age could be a factor (37) but not enough to give these odds. I was told that the NT reading was within normal range (below 3.5) but on the higher end of normal- as I said, the sonographer said everything looked good and was very reassuring as was very anxious in the scan. Baby was moving so much so she struggled to get measurements.

Am a little lost.. I feel so stressed and anxious mostly with all the uncertainty that pregnancy holds and this is another thing to worry about.

Had anyone been through similar or can offer any advice?

I’m 40 and my odds came back 1:5000, so age is a factor but not weighted this much. When’s your next midwife appointment? I’d contact them and ask if you can see them next week and the reason why- they’re usually pretty accommodating if there’s good reason.

There are other tests they can refer you to if the odds are high. Mumsnet won’t give you the reassurance you want, please try and see your midwife, it’s what they’re there for.

Thanks, I did speak to the clinic and they just said bloods normal range, age a factor and that the NT measurement was below the threshold but that it was slightly on the higher end of normal, so it wasn’t any clearer. I was just hoping to hear from anyone who had been through similar and what happened.

Were you offered a NIPT? Harmony or similar? At my trust everyone with odds of 1:500 or higher was offered that so I had it twice. My initial range was about 1:125 first time and 1:90 second time. All fine.

1:60 sounds like a lot but percentage wise it still means a 98% chance your baby does not have Downs

I'm sorry, that must be so stressful.

I haven't been in this position but I can say there are often posts on here with people receiving higher odds (1 in 20 etc) and the vast, vast majority go on to find the baby does not have DS. The odds of an unaffected baby are still very much in your favour. Hang in there and you will find out soon. X

Im so sorry youre going through this.If possible I would get a private nipt done just to put your mind at ease. Higher end of normal is ok sometimes but sometimes its not. I really dont want to scare you but my daughter had a 12 week scan , the NT was 2.6, shes 34. The sonographer did not mention anything and the report just stated lower chance..We only found out that the measurement was the higher end of normal when it was too late and all sorts of defects showed up on the 20 week scan. She will definately be doing the private nipt with her next pregnancy. Hoping everything works out well for you.

Thanks, no it’s helpful to hear so I can prepare for whatever might happen. What happened with your daughter- did they say what was wrong with the baby? I’m so sorry to hear that, must’ve been a shock after thinking everything was ok.

I have done the NIPT - so now just waiting which is worse. Thanks all for the advice on here

Yes, I got a higher risk result aged 37 a couple of years ago, with a nuchal measurement of only 1.1mm! It's a mystery how they work the risk out. My risk was 1 in 16 IIRC. HCG normal but really low papp-A. NIPT came back fine.

I saw it as a blessing in a way, because I got a free NIPT test out of it! NIPT is far more accurate, and I felt much more comfortable sitting on a low risk result from NIPT than I would have if I'd got a 1 in 151 risk from the combined test and not been eligible for NIPT.

@Worriedallthetime123 Because of the defects found on the 20 week scan, my daughter was told the likelihood of her baby having a chromosomal abnormality was between 30/ 50% so she went in for an amniocentisis and they found no heartbeat. The consultant said that nature had taken its course. The amneo results confirmed down syndrome. But please remember, our baby had a host of defects, brain, heart, GI tract and many more and there are lots of people who have had a higher end of normal NT and everything has been fine with baby. We are just annoyed that this wasnt mentioned at the 12 week screening as we would have had a private nipt. Nothing could have saved our precious boy but if we had known sooner it would have saved my daughter delivering her baby at 23 weeks and 6 days. Im sure everything will be fine for you and im hoping and praying that your baby is healthy.

Thanks for sharing that. How did you manage waiting for the result? I can’t stop worrying, but it’s more the unknown that is causing me to spiral. I swing from thinking less than 2% is very low to thinking there must be something significant for it to have been flagged in the first place and googling NT measurements etc. Driving myself crazy!

I’m so sorry to hear that, how awful for your daughter to go through and for you too. It must have been so difficult at a later stage in the pregnancy too to find all that out.

Thank you so much for your kind words.

There really doesn't have to be anything that significant. They cast a wide net so that they get most of the positive cases, but obviously that means scooping up a lot of women who have healthy babies too. At age 37 you have about a 1 in 200 risk as standard. They then apply your bloods and NT (and a few other minor factors) to that standard risk and tweak it to reach your 1 in 60. You don't have to have particularly unusual bloods/NT to increase the risk from 0.5% to 1.7%.

I got through the waiting the same way as I handle anything a bit nerve wracking - keep busy!!

Screenings are not diagnostic. Just because you have an increased risk of Down's Syndrome doesn't mean your baby will have it.

On the NHS they do offer extra scans for the higher risk babies. If something is detected than you can decide what to do then.

Definitely speak to your midwife to go through your options.