I:400 after nuchal test combined with bloods

(24 Posts)
Hazeydays Sun 21-Apr-13 11:03:21

Morning ladies, I was hoping that you might be able to help me with some information.

At 33 this is my first pregnancy, after 4 attempts we were unable to get a nuchal translucency as little one was doing a very good impression of tigger so I asked to have a blood test done instead.

At 17+3 I had bloods taken which were for a quad test, and the nurse had said to me these results would be with me in a week,but having not heard anything in that time i contacted the hospital and they said the results took 6 weeks???

That would preculde an early detailed scan and give a very short window to make any decisions.

can any of you tell me how long it took for you guys to get the quad results? (hcG, AFP inhbin and estriol)

the not knowing and worry is just awful.

LemonPeculiarJones Tue 26-Feb-13 13:38:42

We've just had our results back after the first scan and blood tests: 1:397 for Down's.

Although considered low risk (and I know things could be much worse and we are comparibly lucky) I feel very shaky. With DS1 the odds were 1:4000.

HCG is 1.3, pappa 0.6. NT fine at 1.1.

That all seems ok, although obviously I am no expert. Just judging on what the midwives have said in response to my questions. So why the increased risk? Is it all down to my age (40)?

Also - weight is a factor in the calculations but not height. Two people might weigh the same but be taller/thinner or shorter/larger. Is their risk factor for weight identical?! Seems inefficient..... confused Anyone know anything about that?

I am going in for Harmony testing on Thursday morning. So expensive but we need to know.

Urgh, more waiting sad

At 29 I had a 1:263 chance, nothing picked up on any scans etc. Down syndrome diagnosed shortly after birth, after he needed resus numerous times for his severe heart condition.

NewChoos Wed 20-Feb-13 21:00:08

My risk was 1:400 and we opted for an amnio. We felt we needed to know and would probably not have proceeded with the pregnancy if DS confirmed.

madwomanacrosstheroad Mon 18-Feb-13 20:27:20

I did not want to sound flippant and it is a personal decision. My decision not to test was more round the logic that there is a lot that can go wrong before, at and after birth and that nothing can or will guarantee a healthy baby. I did however know that after the nuchal scan things were not great. I had a feeling and was starting to prepare myself for difficulties. The thing is none of the statistics or risks are meaningful if yoi are the one affected. For me it did not matter wether my babies risk for downs was 1:2 or 1:2000000.
Once i had the diagnosis it was easier and i am glad that i did not even have to consider a choice. Horrendous and devastating as it was, i know it was the gentlest solution for the baby, my other children and in the end me as well.

snapple21 Mon 18-Feb-13 20:08:34

My risk was 1:330 which didn't sit right for me so I opted for amnio (age 22)

I had low papp a, normal NT 2.4mm. Can't remember HCG.

My baby had downs. I had a TOP and let my baby go my own personal viewpoint of having a baby with a disability was that i didn't want them to ever suffer and didnt want to gamble with the potential problems downs may bring. Didn't make it any easier though x

Whatwhatwhat Mon 18-Feb-13 19:34:52

I'm in Ireland and nowhere does harmony.
I had a good long chat with consultant and he's apparently the main man in this area. He says risk with CVS is 1:100/200 whereas Amnio is 1:1600. He says that he had carefully examined the scan and I pressed him as to what his instinct was (my word, not his). He said that based on scan everything looked fine and his instinct was that the baby was fine.

I am on my phone so I can't name who set it out so clearly above but I want to know for the same reasons. I'd prepare myself better.
So I have decided to go for Amnio in a few weeks.

Thank you so much everyone.

Grapesmum Mon 18-Feb-13 19:17:01

I had 1:373 risk this pregnancy and I'm 31 years old so my age risk was 1:800ish. I was worried as with my son my risk was 1:37000. I also work in Genetics so get paranoid about things like this as I see the bad side on a daily basis. I went to the Fetal Medicine Centre at 16 weeks and got the Harmony non-invasive test and a detailed anomaly scan. The scan was perfect and the Harmony test came back all clear after 2 weeks. Put my mind at ease load, although it was very expensive. I didn't want to have an invasive test as the risk of miscarriage was higher than the risk of having Down syndrome. If my risk figure was higher though, I would have had an invasive test. Could you afford to have the Harmony as that seems like a good option for 'intermediate' type risks?

lozster Mon 18-Feb-13 18:47:36

http://www.wolfson.qmul.ac.uk/epm/screening/docs/Combined%20hp.pdf

The risk of downs for your age is 1:200. Maybe speak to your mid-wife to check this and discuss how your result compares.

Rooneyisalwaysmoaning Mon 18-Feb-13 18:46:54

I am really sorry that you lost your baby, Madwoman - that's tragic sad

Just wanted to explain why I wanted to know - though I wasn't offered any testing so didn't have any.

It wasn't so I could terminate - I didn't want to terminate in those circumstances. It was to prepare.

I have a friend I haven't seen in a few years, who had a little boy with Downs. She didnt know he had it till he was born.

He was really poorly - he couldn't suck, was very floppy and poorly and had a lot of difficulties from the off. I don't think she recovered from the shock and sadness. Certainly the first few weeks, the first year even was hellish for her - he was and is afaik a dear little boy but with profound difficulties. He must be 8 now, we see him sometimes around town.

I didn't want to go through that shock and adjustment with a new baby to care for - I understand there are many variations on the effects on the child, but I wanted time to get my head around it if my child did have it. So I could be ready for the likely issues. Such as things like not being able to breastfeed (I know some children with DS can) and asking my family to be around to help a bit more, that sort of thing. And I'd have wanted to be prepared for any necessary interventions during labour and the second bit of pregnancy, too as I believe there are greater risks in certain areas.

That's all really.

lotsofcheese Mon 18-Feb-13 18:13:22

I had a similar result (1: 357) & had an amnio. The risk of miscarriage in my unit was 1: 150, so the chances of m/c were higher than a chromosomal abnormality (of which Down syndrome is the most common). But I needed to know for sure & had the amnio - it was fine & I was incredibly reassured; for me it was the right thing to do.

I notice your PAPP-A is a little low - have you spoken to your midwife/consultant about that?

neolara Mon 18-Feb-13 17:11:39

No. I definitely wouldn't.

WhichIsBest Mon 18-Feb-13 17:09:59

I got a result of 1:350 ish at age 27 and didn't consider further testing.

madwomanacrosstheroad Mon 18-Feb-13 16:09:08

I had three pregnancies in my 40s. Didnt do testing as i felt the only reason to do invasive testing would have been to terminate which i did not want. The last two times i did however get nuchal scan. First one was good and dd was fine. The second one was bad and my baby was born at 21 weeks. The postmortem showed he had downs and a severe heart defect. 80% of downs babies are stillborn or miscarried. I dont think i would have forgiven myself had i lost him after invasive testing. A nuchal scan of less than 1 with nasal bone present is good. If he had downs and you would not terminate why would it be so important to know for sure? If there are no additional medical problemsthe main issues are global developmental delay. No test in the world will tell you how badly your baby is affected but with your results i would not be overly concerned.

lozster Mon 18-Feb-13 16:04:03

Whatwhat - I just tried to look up the table of norms per age and can't find it on my awkward phone. I have a hunch that you are beating the odds for your age group with your score.... I will try again later.

Also, you will see on this board lots of discussion about the harmony test. It's a highly accurate screener - the closest one to a diagnostic. This could be an option for you.

Rooneyisalwaysmoaning Mon 18-Feb-13 15:56:20

mine was 1:350. I was worried as friends had thousands, not hundreds.

I didn't get any further tests. Missed the nuchal fold deadline as I was weirdly 10 days further on than I thought so about 3 days off their scale. Had the quad test instead. afaik ds is fine.

lozster Mon 18-Feb-13 15:52:29

Well I just got an 'all clear' after a 1:4. Yup - no zeros missing there.

My hospital will only offer further testing if you are worse than 1:150.

You could wait and have the 'safer' (statistically and in my mind) amnio. Or you could have a more detailed ultrasound when the baby is more developed - I was told 18 weeks for this. its too soon to see the organs clearly enough before then though they did look before my amnio. They are soft markers only so not definitive.

I understand where you are coming from though. My results were so bad there was no indecision about diagnostic testing. Had they have been say 1:100 id have been less clear. Mind you 1:400 and id have been ecstatic! the norm for my age is 1:150x. We were undecided on what to do if the results were not good. We had a high need to know either way and are happy and grateful that we spent this weekend shopping for maternity clothes and not having the most difficult conversation of our lives.

kicker Mon 18-Feb-13 15:16:37

How about the heart scan?
The literature I had at the time said that there was a risk of miscarriage of 1:100
ie out of every 100 procedures one might be expected to end up in losing the baby. As my risk was 1 in 463 (ie 463 people with similar results to mine one child would have Downs) I thought it was a risk I wasn't willing to take for my much wanted third child.
Your results really don't seem bad at all. Could you ask the midwife to explain them to you.
In the end its your decision

Whatwhatwhat Mon 18-Feb-13 15:11:07

Nasal bone was present

kicker Mon 18-Feb-13 15:06:48

what about the other physiological markers? Eg nasal bone present. can you have a detailed fetal heart scan
These were my results 4 1/2 years ago
Age 37. Nuchal 2.8

beta Hcg 1.38
Papp-a 0.79 Mom

It gave me an adjusted risk of 1:463 for trisonomy 21
I declined CVS because the risk of miscarriage was greater than the risk of having Downs (and I had a very strong gut feeling everything was going to be OK anyway) but that really isn't the point
DS 2 was/is fine
good luck

Whatwhatwhat Mon 18-Feb-13 14:57:51

I think I would want to know definitively. I don't believe I would have an abortion but these odds seem pretty bad to me.

Delayingtactic Mon 18-Feb-13 14:56:24

It depends on what you want to do with the result. If it would change your course of action completely knowing almost 100% that your child has Downs then for you the risk of miscarriage may be worth it.

FWIW, I refused any DS screening for my first pregnancy. I don't agree with abortion, the risk of mc was too high for me so I wouldn't have gone for it even if high risk and I would only spend the pg worrying. For next pg, I will probably get the nuchal scan and blood test. A high risk would then allow me to manage my own expectations and perhaps prepare DS for what potentially may happen. I still wouldn't have a CVS though because ultimately I'm not going to change my course of action.

Having said all that its a really personal choice and it shouldn't matter if a hundred MNetters say yes (or no), its about you (and partner) feel is the right thing for you to do.

Whatwhatwhat Mon 18-Feb-13 14:47:52

Age 37
Nuchal fold – 0.87
Beta Hcg – 1.5 Mom
Papp A – 0.51 MoM

Whatwhatwhat Mon 18-Feb-13 14:26:00

Would you get a CVS with these results?

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