Downs result high risk

B

birdster

Registered User
Hi Ladies

I have just had a call from the Pamela Youde hospital to say I have been categorised as high risk for downs

1 - 55 is the rating

When I went there yesteday the back of the neck measurments was 1.3 which the scan guy said looked fine
They took blood and the nurse said that was also fine
But the nurse said it could be my age

So my question is.. WTF does it all mean ?

Do all women of my age 37 almost 38 get this sort of result because of age or should I be concerned ?

Anyone been in a similiar situation ?

Should I be doing this test again privately ?
 
How many weeks are you? And what are your thoughts about having an amnio?

I believe that Dr Lam at HK prenatal diagnostics will do an ultrasound scan in which he will look for downs markers such as facial structure, limb length etc and if I were in your situation, I would go to him.

With your test results, it could mean DS, it could mean nothing at all, or it could mean something else altogether. 1.3 is pretty average though, isn't it?

Three years ago, I was pregnant with my 2nd child and we had a 1 in 7 risk for DS. My daughter's neck measurement was 4.5 or so! We decided to go ahead with the amnio just because we wanted to be prepared - we wouldn't have terminated regardless but felt that the knowledge would help us with the rest of the pregnancy. At the appointment for the amnio, however, the doc could see that instead of DS, my daughter had a form of dwarfism. We didn't end up getting the amnio because it likely would not have given us a definite diagnosis, however we did have a general idea because of ultrasound at least.

Many women are very anti-tests because of exactly this reason - it can cause a whole lot of stress over nothing. I know my situation is different but I went through hell during my pregnancy and while it wasn't "nothing", my daughter is healthy, smart and a joy to our family.
 
Based on your age alone, your risk would be around 1-200, so something has increased your chances. A neck measurement of 1.3 is really good and if your blood work was ok I'm guessing it must be external factors, like a family history or something like that.

I don't understand why the nurse would say it's your age: I'm 36 and after the test my risk came back as 1:38,000. Can you speak to a doctor at the hospital and get a better explanation? I think a second opinion would be a good idea if you can't get more information from them.
 
Hey ladies, Thanks for your info

Nicole would you mind to share with me the contact details for the doc you recommended as will consider going to him if necessary

I'm 37 yo and only 11 + 4 so quite early on still. The nurse advised that we come in to discuss in more details with a doc which we will do next week as I want to understand where that stat actually came from if blood was normal and neck measurements

Thanks ladies will keep you updated
 
The doc Nicole is talking about is Dr Lam Yung Hang ..his number is 2877-3280. I had him for two pregnancies my second was a suspected DS like yours...I was 36 when I was carrying her. anyhow, he will give you a detailed scan and will probably tell you that blood tests are inaccurate....I did two..I was high risk, the other was borderline and he did his scan and was 99.9% sure that my baby didn't have DS. Anyhow, you will be in good hands. Be patient when you call as they have no answering machine and it takes a long time for people to pick up the phone. First thing (9am) is good or right before they close At 6pm worked the best when I was trying to make an appt. With him.
 
I second Dr Lam. He is a fetal specialist at the Hong Kong Prenatal Diagnostic clinic, Henley Building in Central.

I went to him about two months ago with high risk results for twins. He did a nuchal fold test again, but most importantly recommended I take the new NIFTY blood test. This new test almost makes the need to have an amino obsolete due to its accuracy.

It's called: Non-invasive Prenatal Genetic Testing for Fetal Down Syndrome (the NIFTY test).

The OSCAR test gives a 90% detection rate, but a 10% missed diagnosis rate and a 5-7% false positive rate (which could lead to potential loss of healthy baby through complications of amnioscentisis). Whereas the NIFTY test gives >99% detection rate, a <1% missed diagnosis rate and a <1% false positive rate. It is almost as accurate as an amnio (at 100% detection, 0% missed diagnosis and 0% false positive).

It really saved us so much heartache over the whole thing - whether to do an amnio and risk losing one or both of them, or live with the worry for the next 6 months etc. etc.

If you are concerned about the OSCAR results and are considering an amnio, definitely give him a call and do this test instead. It's quite expensive, but even if our insurance hadn't covered ours I would have gladly paid the expense to have that peace of mind and not have to take the risks of an amnio.

Good luck with it all anyway.
 
The combination of your blood (blood itself can look fine) and the nuchal fold have put you on an increased risk, 1:55 instead of 1:200 (or 242 what I found). As soon as the risk is higher than the expected risk, they'll ask you to consider further action IF it would change the continuation of the pregnancy.

I had my last one done at age 33, and my chances came back 1:7200 so obviously no need to taken any further action. In case of 1:55 it would still mean that 54 children would be born healthy without Downs, and 1 might have it.

Also amnio risks vary greatly. Some docs have a chance of 1:200, others can do as well as 1:400 or 1:600 miscarriage rates. You need to ask yourself would you want to know in advance? Would you end the pregnancy if it were the case?

Twins like pp said is very hard. This test is known to be less accurate for twins in the first place, but I risked it, and said I would deal with it later), got my 1:7200 back and left it with that.
 
But 1.3mm (I'm assuming the OP was referring to the actual measurement) is a really good result. Mine was 1.2mm, and apparently no one gets less than 1mm. In fact from what I've read anything less than 2 is good - so the increased risk is strange if the blood test was good too.

Sent from my GT-I9100 using GeoClicks Mobile
 
We're sorry you're going through this. You've received some wonderful advice from a number of mums. We also asked Hulda from Annerley for hers and received the following:

It depends on what test was being done, and judging from this, it will have been the Oscar Test (nucal fold screening and blood test combination). This test, along with age calculation gives an estimation of risk of Down Syndrome, i.e. by doing these measures they will be able to tell you if the physical symptoms that are measured, indicate that your risk of having a baby with DS (and other syndromes actually) is higher or lower than your age alone is giving you. For example, someone who is 38 years old, has already a risk of around 1 in 100 or so, so what the test is essentially telling you is that the measurements there, are putting you at a higher risk than your age alone is.
This does not make it a very high risk, but still higher than average for your age.

What it means is that you may want to think about the next steps. If you are quite sure that you would always continue the pregnancy, no matter what, then the next steps are just to carry on, and should the baby in fact have DS, you would probably see that in the 20 weeks scan. If you are quite sure that if you knew your baby had DS and you would want to terminate the pregnancy, then next step would be to do a DIAGNOSTIC test, (where as this is a prediction test, it is not diagnosing anything), an amniocentesis, where you would have it confirmed if there is something wrong with the baby or not.

If you want more information, please feel free to come and I will explain this to you in person, there are factors that vary in situations like this, such as when the tests are done and more, and essentially they should not really every be done unless the parents know what they want to do with the results. False positive response is also rather commonly a possibility.
 
MommyTo3 said:
Twins like pp said is very hard. This test is known to be less accurate for twins in the first place, but I risked it, and said I would deal with it later), got my 1:7200 back and left it with that.
Click to expand...

MommyTo3 - FYI the NIFTY downs test is now licensed for use with twins also, and just as reliable as for singletons, so good news for twin pregnancies.
 
I agree with the above re Dr Lam. He is awesome. But very busy so good tip to go early and bring cash as when I went to him it was cash only. No credit card or EPS even.
 
Overwhelmed by all your kind word and info

We have a doc appointment this week to go back and talk the specifics of the blood test and it's clearly that that has pushed the risk up

If we feel it's necessary after that then we will go and see this Dr Lam and explore the options there.

Me and OH both feel we would need to know conclusively before continuing on with the pregnancy

The NIFTY test sounds promising, may I ask if anyone knows the cost of this ?
 
Hi Birdster, I had a detailed scan and the NIFTY test with Dr Lam as a follow up to our Down's concerns. The scan was as detailed as the 20 week morphology scan. The scan cost $3000 and the NIFTY cost $5,500 as I recall. This was for twins though, so I think that definitely pushes the scan cost up...not sure about whether it changes the NIFTY cost. You can just give the clinic a call and find out how much they charge.

When we saw Dr Lam, we did the detailed scan first and at that point he was already convinced that both babies were perfectly normal. We decided to do the NIFTY just for further peace of mind, but even if you think NIFTY is too expensive, I'd still recommend going to see Dr Lam even just for the scan because he's very experienced, and the strength of his opinion may be enough to give you peace of mind.

The NIFTY test took 2 weeks to come back with the results, and as Starbucks2 said, the clinic only takes cash.
 
Hey Nicole, thanks for the offer

We went and saw Dr Lam yesterday and had a down investigation scan he said he's almost certain we have not got a baby with any downs characteristics so we should have nothing to worry about

He advised if we want 99% clarity then we can consider the Nifty test

Thanks again for the advise and contact of Dr Lam he was awesome and so helpful
 
birdster said:
Hey Nicole, thanks for the offer

We went and saw Dr Lam yesterday and had a down investigation scan he said he's almost certain we have not got a baby with any downs characteristics so we should have nothing to worry about

He advised if we want 99% clarity then we can consider the Nifty test

Thanks again for the advise and contact of Dr Lam he was awesome and so helpful
Click to expand...

Glad it worked out for you.
 
When you have your first scan can they give you the downs liklihood right there or do you have to wait for blood tests?
 
you can see your nt measurement as the doctor is doing it, but you won't get told your risk until they have the blood test result aswell.

Sent from my GT-I9100 using GeoClicks Mobile
 
You must log in or register to reply here.
Back
Top