Please help! Nuchal fold 1.3mm but bad blood results.

[olii]

Hi Ladies, I dont know where to post this and I dont know what anyone can say to me, but I'm looking for some support and advice about my tests i had on the NHS.

I got pregnant naturally after having many failed cycles of ivf am currently 14+1 but at our nuchal screening scan at 11+6, but because the baby measured bigger at 64.2mm, they altered the date to 12+5 days.I dont know if this is good or a bad as i have a 28 day cycle and know my dates well.

The scan measured the nuchal gap as 1.3mm and together with the bloods.
Maternal serum biochemistry:
-Free-B-HC:215.09IU/I equivalent to 3.878mom
-PAPP-A: 1.330IU/I equivalent to 0.687mom.

So the nuchal combined with the blood test put me in a high risk for Downs (1 in 74). The sonographer recommended that a genetic councilor will give me a call or she will make arrangements i see her the next day for a chat.
Appointment was booked the following day and went in to speak to the genetic councilor and she went through my results again.
MY REPORT:
Ethnic origin: black African/ carribean
weight: 70kgs
Parity: 0 smoker: No
FIRST TRIMESTER ULTRASOUND:
-Gestational age 12+5days from CRL
FHR 167 bpm.
CRL 64.2MM.
Nuchal translucency 1.30mm
Amniotic fluid normal
Fetal anatomy
Skull/brain:appears normal: spine: not examined; abdomen appears normal; stomach;vissible hands both visible;feet; both visible.
So being 37 my background risk is 1:204 and the adjusted risk came down to 1:74 but after speaking to the genetic councilor who was going through my notes, i noticed they had put me down as a non smoker so i did come clean with her and explained that although i did smoke, i had cut down to 1 cigarette a day and she stated she would have to recalculate my risk again....and this came back as 1:142.
Am booked in to have a Amnio on the 16/12/10
but am very confused about the whole thing.
My question is how does smoking affect the result as when i told her i smoked my risk down up by 70?....Am so confused about the bloods too, what do they mean? someone please help me translate my results.

To get a 1 in 74 and then changed to 1 in 142 I am confused and devastated.
The baby was otherwise healthy on the scan, you could see the heart, it was moving a lot and waving its arms.
Please share your experiences, good or bad...i will be ever so grateful.
Many thanks,
Olga

[grandj]

Hi Olga
Sorry you've had some worrying results, it's a very scary thing to happen. But on the positive side, 1 in 142 (or even 1 in 74) is considered "high risk" but is not anything like a definite diagnosis - and if you look at it the other way around, 141 of 142 babies with your results would not have a problem.

Looking at your report, it's the combination of raised Hcg and lower Papp-A that have increased your risk of Down's. Nuchal fold of 1.3mm is well within normal and is a good sign. I've had different experiences, but there have been many ladies on here with similar or far worse results than yours who have come out with healthy babies.

I don't know about the smoking - I think smoking can lower your Papp-A reading which might be why they have revised your odds. The median reading for both HcG and Papp-a is 1.0 so you can see that your HCG is above average and the Papp_a a bit below.

Hopefully your hospital has explained to you that the only way to find out for sure is to have a CVS (up to 14 weeks I think) or an amniocentisis (from 16 weeks). There is a very small risk of miscarriage with both. If you wait for the amnio you may be able to convince them to send you for a detailed scan at a specialist hospital when you are around 16 weeks so they can check for any other signs - again, this won't give you a definite answer as they don't always pick up a problem but it can give you more information to help you decide what to do.

If you are anywhere near London I would highly recommend the Fetal Medicine Centre www.fetalmedicine.com. They have very good scanning machines - a scan costs about £150 I think. Prof Nicolaides actually devised the combined nuchal and blood test now used by the NHS. Any profit they make goes back into funding more research into fetal medicine - and if you are unsure what to do next, they are the best people to give you all the information to help you decide.

ARC, a charity that helps people who have had high risk antenatal results, are also definitely worth a call - www.arc-uk.org/

Hope this helps xx

[olii]

Hi Grandj, thank you so much for your advise and help....i contacted fmc and will be having a detailed scan as am still not sure if i really want to go ahead with the amnio, i have also goggled the effects of smoking on papp-a blood results which gave me alot of info.
thanks again for taking the time to respond to my post.
Olga

[mummytoh1]

I can't comment on the smoking issue, as I don't smoke so don't know how that affects the results.

But as Grandj says, the odds are in your favour. Plus you had a very active baby with no visible signs of a problem at the scan.

My results were 1:15, due to a combination of high hCG (1.65 MoM), low PAPP-A (0.39 MoM) and nuchal fold of 2.6mm. I'm 35. I had a CVS and got the all clear on all fronts, and have just had a normal 20 week anomaly scan too.

I hope that helps in some way. I hope that the detailed scan gives you more information to make a decision on re the amnio. And congratulations on your natural pregnancy!

Claire x

[FannyLogan]

I had the following:
Age 32
Papp-a 0.6 MoM
HCG 3.0
Nuchal: 4.6mm

Risk came back as 1 in 3 for Downs. I had an amnio on Wednesday which has just come back as negative.

I know smoking lowers your Papp a so that would be why your odds came back better.

Just to say, you can beat the odds and yours are so much better than mine.

HTH in some way!

[GooseyLoosey]

Risk came back very high for my dd, can't remember what exactly, but it was about 1 in 5. I couldn't believe it.

The high result was all down to the blood test results - the nuchal fold was fine.

The GP said to me that the bloods tended to generate more "false positives" than the scans and he would be more relaxed where the high results were from the bloods.

Can't help you with the smoking thing.

I know 1 in 74 may sound high to you and be classed as such, but that does make it statistically very unlikely that there is anything wrong with your child.

I had an amnio and dd was fine. She is now 6.

[pipoca]

I had a 1 in 68 risk with the following>
papp-a 0.54
HcG 2.75
nuchal fold 1.6mm

Had an amnio and it's just come back all clear. I've had hyperemesis which possibly accounts for the high Hcg, but also the bad blood results can be just down to natural variance. Apparently it's more likely to be a false result if it's the blods that are iffy but the NT is good.

HTH

[RememberToPlaywiththeKids]

well my NT was 2.85. Does that count as 'bad'?

[Kendodd]

When I was pregnant all my test results came back low risk, but you still worry. No advice as such but I hope this is a helpful story, it really helped me.

I read about a woman who had just given birth to a baby diagnosed with Downs, a complete shock as they weren't high risk. She said everyone was really kind and sorry for her and DH but they didn't feel they needed it, they were both so happy. It was their first child and they felt they should be devastated by this news, but they just couldn't stop smiling, they had their beautiful baby girl with them. She didn't seem to have any heart problems, slept and fed like a dream and they couldn't be happier.

This reassured me more than any test result ever did, its not what you hope for but isn't the end of the world.

Good luck with your baby

[Dunoon]

Don't know all the figures but after a scan and bloods my ratio was 1:5 and I then had a CVS. Came back all clear.

Good luck in whatever happens.