1 in 137 chance of downs. Does anyone know how the blood tests are interpreted?

[Laphem]

I have just been told that my baby has 1 in 137 risk of downs. My age is 41 which is obviously high risk ( 1 in 75), the neuchal fold was 1.9 which is low risk and the hcg was 2.05 ( average is 1.00 apparently), and protein papp-a was 0.65 (average 1.00).

The midwife was obviously trying to be nice but I felt she kept trying to minimise the risk of downs. She kept saying it was a low risk result when clearly it isn't as I have the option of amniocitisis ( or however you spell it). I am a bit shocked at the result as we knew the neuchal fold on the day of the scan, and as it was the same as ds1 who was born two years ago who was over one in 3000 risk of downs I kinda thought everything would be okay. The midwife said the hcg was only a very little bit higher and protein only a very little bit lower, but I can't help thinking it must be a lot higher to negate the low risk from the neuchal fold. Does anyone know what the range of hcg and protein Papp-a is in downs babies? I would like some context for the result to help me decide whether to go for an amino. I can't find the answer by googling!

I think another way to approach it is, what would I do if the amnio was positive for Downs. If you know you would terminate then go straight for the amnio.

We can become befuddled by the numbers and at the end of the day it is a risk factor only.

FWIW I have a child with downs and if I were to get pregnant again (unlikey) I would bypass all tests and have a CVS or amnio.

Also, it's generally considered best to phrase it baby with downs, not downs baby.

Your combined results decrease the risk which would be by age alone, and that is a very good sign. The separate values from the blood tests are not very informative - it is a combination of all factors that gives the most accurate risk estimate. Then you need to decide, whether it is high or low in your mind, and whether you want an invasive testing or private noninvasive fetal DNA test. Since your age related risk is high, even perfect average blood tests values would not result in a very low risk. Risk shoots up over 40 years of age, so two years ago your background risk would have been lower as well. I would also recommend calling ARC charity if you'd like to talk through more.
Very best wishes for your pregnancy - and you have over 99% chance that everything is fine.

Thanks daluze. I think I might look into calling ARC, it was really helpful of you to give me that contact. I have booked for an amino in a couple of weeks, but may cancel it. I would really like to know if the baby had downs or not to help me prepare for when they are born. Trying to cope with a toddler and a new born and coming to terms with them having downs seems overwhelming. But then there is the risk of miscarriage so it is such a difficult choice, and I don't want a termination whatever the outcome.

Lots to think about. And thanks for the reassurance. The medical midwife said the same.
Actually, I have reread your email and see the reference to private non invasive testing. I have not heard of this before. Could I get more info from arc? What is this?

I think the non invasive tests are called Harmony and Nifty.

harmony

nifty

If you want a more definite result without having an invasive test, the Harmony Test and the Nifty Test are both available. You do have to pay (and it depends on where you are) but they're amazing tests. I had the harmony done for dd. It looks at the baby's genetic material found in your blood. So they can tell you the sex too :)

I went for it because they don't do the nuchal fold test on the nhs around here, so if I was going to be spending money, I wanted a yes or no answer.

Xpost :)

laphen You could consider having the Harmony test, where they can test, which is a very accurate and non-invasive test for the risk of Downs, Edward's and Patau's Syndrome. They take your blood and isolate the baby's DNA from it, which is then analysed for chromosomal abnormalities. It's very accurate, but you'll have to pay for it privately. And there is a small % of women for whom the test doesn't work - I tried it twice, without success.

I realise that after having had such a low risk during your previous pregnancy, 1:137 might seem shockingly high, I've had a very similar experience.
However, if you look at it from a different angle, a 1:137 risk translates to 0.72%, so this actually also means that there is a 99.3% chance that everything is fine! Which is not bad at all!
Hope this helps.

I have had a cvs this morning as my results came back with a 1-3 chance of downs good luck with your test x

whonicked I have a son with DS if there is anything you'd like to ask please go ahead.

Thanks wips I will let you know just focusing on resting for the next few days and then when ever will be :) :) :)

I have been given the worst news that my chance is 1/121. So i done a a bit of research and found they do the nifty test at the royal london hospital for £350. I went yesterday and a lovely lady called margeret done the test for me and talked to me for over an hour. Should get results within 16 days x

That is is a 0.7% chance. Which seems low to me personally but I realise we all have different views on that. In my late 20's, early 30's I had two high risk results. I declined further testing and declined testing completely for baby #3. All babies are fine.

Yes it is a 0.8% chance but I just can't help wondering. I wanted further testing I'm 38, 39 when baby is due.
The lady was yesterday was telling me that the NHS has a cut off point, so if your ratio is 1/ 150 or over then you wouldn't even be contacted or seen as a risk for Downs.
Also the NHS will be bring in the nifty and harmony in the next 5 years as it's such an accurate test more than what's on offer now.
I'm preying my results come back negative.

shaz1976 - good luck with the nifty test.

FWIW, here's my experiences.

I was 1:80 for my first, had amino and my waters broke hours after the amino. Amino results normal but its incredibly stressful when your waters break at 16 weeks. Potential for infection, miscarriage, preterm birth, risk of respiratory problems or under developed lungs etc..... We were extremely lucky. I managed to hang on till 32 weeks and have a happy healthy cheeky toddler.

For this pregnancy, I booked a private harmony tests. It included a combined test to research accuracy. And I had the combined through NHS. Coincidentally, both tests were done on the same day (except NHS took bloods one week beforehand). I was gobsmacked when one combined result came back 1:177 and the other 1:1508. The difference is staggering.

With my third (I was 36) I had raised hcg and low papp-a (it was 0.18) (but normal nuchal) and my risk for Downs increased dramatical to 1:20 (ie 5 % chance). On the basis we had a higher risk of a baby with Downs than a miscarriage we opted to have a CVS but it failed (placenta not in right place), so had an amnio. The amnio was extremely stressful. I felt like I was walking to my grave. I took 3 days off work just to be on the safe side (and to be at home should the worst happen). I didn't know then what I would do if the baby had Downs, but I was more worried about trisomy 13 and 18. For me I just had to know.

Results came back normal, baby was fine, and I was put on baby aspirin for the rest of my pregnancy (75mg/day). A risk of low papp a is intra uterine growth restriction so I had an additional scan at 34 weeks to check on baby's size and an echo-Doppler scan at 26 weeks. Baby was absolutely fine and healthy.

Good luck!

Expecting2nd - wow that is a huge difference between the two combined tests! Did the private one include more markers or something? How did you know which test to rely on most?

I am going to be FMC in London for the combined test Nuchal NT and blood as well as harmony, and wasn't planning to do the NHS NT combined test scan at all....

Hi everyone

I'm new to forums and this is the first time I've posted - however, I would really appreciate some advice. I am 36 and pregnant with our first baby. I am currently 14wk and 3 days weeks but measuring 13 weeks.

We had our NT scan last week and the NT measurement was 1.2mm and I was told we were in the low risk group with a 1:1526 chance of a DS baby / other abnormalities.

However, I received the blood test results back today and the combined screening has given us a totally different result, putting us in the high risk category, at 1:124.

How can the NT scan be low risk when it checked the baby, showed no soft markers or abnormalities and yet the blood test changes the result so dramatically.

We have another scan tomorrow morning and they have suggested the Harmony test as the amnio can not be done for a few weeks. I need to have a cervical cerclage so the sooner we get the result the sooner this can be done (at a lower risk).

Does anyone have a similar experience where they could share their experience of the NT/combined results? Alternatively do you have any questions that you think I should ask?