Down's Syndrome High Risk Results

[palangi]

My sister has been TTC for 7 years, and after 5 x IVF, they gave up. She's 36, and just found out a few months back that she's expecting (naturally!)

We're obviously all thrilled for her, but it seems their joy is short lived as they've now told her that she is high risk for DS after the screening blood test.

She has been given 1/65 odds. Or another figure they gave was 98.5% chance the baby will be normal.

I know that she would never consider a termination, or even the diagnostic test as it holds a risk of miscarriage - but I wondered if any ladies here have had a similar experience they could share?

Many thanks for your kindness

Melissa

 

[BabyBean14]

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[Creative]

. I know one lady who is doing an ultrasound where they can measure something about the fetus' skull or neck that can determine Down's.

Thats the nuchal translucency, but it only gives a likelihood and I believe that's what the OP has already had.

There are new tests that are currently being trialled, but they are not generally available.

98.5 is incredibly good odds that the child won't have it. There is a lot of wonderful advice on BnB about Down Syndrome.

 

[kit_cat]

Your poor sister. After all those years, to finally get what she's dreamt of only to be given this news. My heart goes out to her.

I don't have experience of this personally but please do remember that risk ratios are just that and because she's over 35, the risk figure gets increased because there are less women in this age bracket having babies than say in their 20s.

 

[NatoPMT]

I had a 1 in 14 chance of DS with Eloise. You get separate readings from the nuchal fold, and the bloods, and together they give a combined risk. I would ask what the physical (nuchal fold) risk is. If thats low, and the bloods have increased the risk then she has a different decision to make depending on her age and circumstances

98.5% is a great percentage to gamble on, but i do know of babies born with DS on 1-250, and even 1-500 - i forget what the cut off risk that they recommend further investigation is, but its way better a risk than 65. So, i would say if she is going to go ahead with the pregnancy whatever her baby's status, dont have the invasive tests. If she isnt, then have them

I had a CVS which you can have up to 14 weeks i think, its higher risk mc than amnio. The mc risk varies between hospitals and individual surgeons, you can check online what her hospitals record is like with mc. If she decides to go ahead, i would be happy to talk you through what happened to me, but they check the hb before and after the procedure and you can watch it happen on a screen, if the needle doesnt touch the baby, and the hb is ok at the end, then the chances of mc are very very low. If there is mc, then its most likely because the baby had a chromosome problem. If she wanted to keep the pregnancy regardless, thats why i would say dont go ahead with invasive. However, surgeons do make mistakes, and it is invasive so some healthy babies are lost, its just less likely.

As shes over 35, i would guess that her bloods arent great. Bloods arent fully to be trusted which is why they give a combined test. Physical markers are much more accurate, but i have heard of babies with 5 nucal measurement who are fine. And 5% of DS babies show no physical markers, although they are the ones more likely to have less disability because of their condition

theres a site i used to input my measurements and bloods, and with the same measurements, just a lower age, my risk went to 1-1600 - the age really skews the results

Its a horrible horrible thing to go through.

 

[Garnet]

My friend had 1\6 chances of DS and her baby was fine. 1/65 the odds are pretty darn good that the baby is fine.

 

[happyending]

My sil and I were both pregnanat at 35 and both had the screening... mine was normal but hers was not. They scared her to death with all the percentages and numbers, but did NOT mention to her how high the percentage of FALSE POSITVIES was on the screening. Her baby was born without DS but they worried the entire time about if they should have the amnio (which they did not) and what to do to be prepared. My sil got pregnant again at 38 and this time declined the screening period. She said it would make no difference in their decision to have the baby so what was the point. I agree with her after reading about the high rate of false positives!!!!

 

[SloanPet77]

My girlfriend had a DS baby last year at age 37. She and her husband did not do the testing and no abnormal measurements were even brought up? I know she wont say it outloud now but i have a feeling if she had to do it over she would have done all the testing possible. If your sister is not going to terminate there is really no point in discussing what she could of done at this point. I know my girlfriend is very overwhelmed with the thoughts of how she is going to deal with this for the rest of her life. Everyone must make their own decision on this, my husband and i decided what we would do before we even started trying. I hope it turns out how she wants it to, best wishes.

 

[NatoPMT]

My girlfriend had a DS baby last year at age 37. She and her husband did not do the testing and no abnormal measurements were even brought up? I know she wont say it outloud now but i have a feeling if she had to do it over she would have done all the testing possible. If your sister is not going to terminate there is really no point in discussing what she could of done at this point. I know my girlfriend is very overwhelmed with the thoughts of how she is going to deal with this for the rest of her life. Everyone must make their own decision on this, my husband and i decided what we would do before we even started trying. I hope it turns out how she wants it to, best wishes.

Think 5% of DS babies show no physical markers. Not sure why the bloods didnt flag anything up though

 

[Genki]

My sister just had a baby with DS. She's 32, so wasn't in a high risk category - just one of those things and it wasn't discovered during the pregnancy so it was a complete surprise at birth. The odds sound against it actually happening but I have to say, even if it does it's not the end of the world. My niece is 6 weeks old and doing so well despite an initial breathing scare, alert, intererested, growing strongly, feeding well and such a nice tempered little girl. The baby can still be the best in the world!

 

[BabyBean14]

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[NatoPMT]

This is slightly off topic, but I was wondering if someone could outline what the genetic screening tests are these days? I know there are blood tests, ultrasound and that amnio is a possibility, but I heard there is something less invasive they can do in first tri?

Since I'm over 35 we'll definitely do the screenings, but I am concerned about MC and would prefer to keep things as minimally invasive as possible.

do you mean the new blood test for DS? i was in the NHS trial for that - they took blood from the father and mother for the trial - think its been a success but the test wont be generally available for up to 5 years. Not sure if its available privately in advance of the NHS testing this way, but if i do get bfp, i will be asking.

 

[NatoPMT]

just found this:

Though the new test is highly effective, it is also expensive.

When the procedure becomes available in Britain it will likely cost £500 a time, while the machine that conducts the analysis costs £500,000.

The UK National Screening Committee will keep all evidence for pre-natal screening under review and make recommendations in light of any new findings.

– A DEPARTMENT OF HEALTH SPOKESPERSON
The procedure - known as the Harmony Prenatal Test - will be available in private UK clinics within a matter of weeks.

It is already being used in some US clinics after being developed by Ariosa Diagnostics.

here:

https://www.itv.com/news/2012-09-04/new-downs-syndrome-blood-test-reduces-miscarriage-risk/

seems peace of mind (or the right information should i say) isnt free, but it is available

I imagine when its on the NHS, they will do the combined test on everyone, and then the new blood test on those within a specific risk. I imagine the cvs / amnio is pretty expensive, it took over an hour and i have 2 consultants and a registrar and a couple of nurses with me mostly for that whole time

OP maybe your friend might consider going private if she does want to know without risk, the upside is that if the baby has DS / another issue then they can be prepared for his/her birth. It might be expensive

 

[BabyBean14]

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[NatoPMT]

sorry kismet - didnt clock where you are, just googled and it is available in canada

 

[BabyBean14]

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[palangi]

Thanks ladies for all of your feedback. The initial screening doesn't really seem to help does it!

She is going for the amniocentesis on Wednesday morning, so I will have everything crossed that she gets the news she's hoping for.

Whatever the results, I know that she will love her baby with all her heart!

I'll let you know on Friday (when she receives the results), what the outcome is.

xx

 

[palangi]

This is slightly off topic, but I was wondering if someone could outline what the genetic screening tests are these days? I know there are blood tests, ultrasound and that amnio is a possibility, but I heard there is something less invasive they can do in first tri?

Since I'm over 35 we'll definitely do the screenings, but I am concerned about MC and would prefer to keep things as minimally invasive as possible.

I know that in the US there is a non-invasive screening test available now. However, it won't be available on the NHS until 2017. The nurse we saw last week hadn't even heard of it though, so I don't even know if you can be referred to a private clinic with additional costs.

 

[Bonnie1990]

In the us it is called MaterniT21 Plus.

 

[palangi]

Good news to report! My sister's results came back all clear, so she's just taking it easy now after the amnio