# 1:17 risk Down's Syndrome



## Physiomom

I am 36 years old and 22 weeks pregnant with my 3rd child (4th pregnancy, had one early miscarriage). I did not do any of the testing at 12 weeks. At my 20 week ultrasound, they noted that the nuchal fold thickness was 6.5mm (a soft marker for DS). The also said that the cardiac axis was 30 degrees (not the usual 45 degrees) but they don't seem concerned about it. We saw a genetic counsellor and doctor at a regional prenatal screening clinic. They said the baby's risk for DS is 1:17 or 6%. The doctor said he "was not anxious" about this pregnancy, so we opted not to have the amnio (which he seemed to agree was a good decision). Now we have to wait until the baby is born to find out if he has DS. Has anyone been through this? Has anyone with a 1:17 risk every had a baby without DS?


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## Jennifer01

Physiomom said:


> I am 36 years old and 22 weeks pregnant with my 3rd child (4th pregnancy, had one early miscarriage). I did not do any of the testing at 12 weeks. At my 20 week ultrasound, they noted that the nuchal fold thickness was 6.5mm (a soft marker for DS). The also said that the cardiac axis was 30 degrees (not the usual 45 degrees) but they don't seem concerned about it. We saw a genetic counsellor and doctor at a regional prenatal screening clinic. They said the baby's risk for DS is 1:17 or 6%. The doctor said he "was not anxious" about this pregnancy, so we opted not to have the amnio (which he seemed to agree was a good decision). Now we have to wait until the baby is born to find out if he has DS. Has anyone been through this? Has anyone with a 1:17 risk every had a baby without DS?

Hi, didn't want to read and run...I just had the 12 week tests, it's so stressful. I have nothing to share but wanted to wish you the best of luck:hugs:


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## Larkspur

A good friend of mine had a 1:19 chance and her baby was not born with Downs Syndrome. To give you all the information, she was older than you (43) so I think the risk was more about her age than soft markers.


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## babybirdangel

I am 28 and our risk for downs is 1:34. We did the quad screen. We didn't do an amnio we will just wait and see when he is born. The detailed scan at 20 weeks didn't show any soft or hard markers. Good luck and I hope you have a wonderful pregnancy.


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## Stressbucket

Physiomom said:


> Has anyone with a 1:17 risk every had a baby without DS?

I was given a 1:21 a little over a month ago, opted for amnio, and the baby's chromosomes are fine. I've heard stories of women who were given 1:5 odds, and Down wasn't present.

The odds are just that, odds. As your doctor says, 1:17 is just under six percent, which is enough to scare the hell out of anyone, but it also means that you have a ninety-four percent chance it's not Down. Those are good odds in horse-racing, but unfortunately with this the stakes are a lot higher.

That your doctor does not seem concerned is probably a good sign--remember, he's seen a lot of these. Although you may have to wait until the birth to know for sure, ultrasounds will allow them to look for other soft markers, and you'll have more of an opportunity as you go along to tell if the baby's overall development looks as though DS is more or less of a possibility. Stay in contact with your doctor and ultrasound tech, and ask that they keep you posted and explain everything they see thoroughly.

I don't know where you are, but some places, and some insurance, now offer a blood test (noninvasive) for trisomies, (Sequenom markets it as MaterniT21), which is not considered, by my doctor at least, diagnostic, but is apparently very good at detecting Down. If you want to have a higher level of certainty, you might look into it.

All my best to you and the baby. Take it very easy, as you're probably feeling a bit fragile right now. This is a very scary thing to deal with.


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## Physiomom

Thanks for your replies. I did inquire about the "harmony prenatal blood test" but it is not available in Ontario (I could drive to buffalo and pay $1800.00 to have it done). We have another U/S scheduled in a couple weeks to double check that everything looks ok with the baby. The waiting is hard...I'm just trying to be optimistic.


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## Larkspur

I don't know what your approach would be if you did have a firm Downs diagnosis, but I was concerned about it myself as I am 36, and I found reading this blog really reassured me a lot about what children with Downs Syndrome are like. It is really beautiful. 

https://www.kellehampton.com/


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## chattyB

My LO had a 1:11 chance of DS after screening at 12 weeks. We opted for an amnio at 17 weeks. Baby is fine with no chromosomal abnormalities. :hugs: it's such a worrying time for you.


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## LRT

I did the NT and the first trimester blood tests with my son and we got a 1:8 risk of having a baby with Down's or other trisomy. I was really upset. We had a CVS and he was fine. I wouldn't recommend a CVS and will never have another, but it was nice to have the peace of mind. I'm pregnant now and will not have those stupid blood tests because age is the primary driver, so if you are older, of course you'll get a scary ratio. I don't want to do that to myself again. Now they have a test called free fetal DNA that is done at 10 weeks-just a maternal blood test, so no risk to the baby. I'm considering having that done. But, I think you'll be fine. Your ratio means that you have a 16 out of 17 chance of having a baby without Downs.


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## Physiomom

Thank you to everyone that has replied. The waiting is really hard. My husband and I talk about it every night after the kids are in bed...it's just getting exhausting going over the same facts over and over. I'm not really looking forward to my U/S on the 30th...just worried they will find something else. I wish I could go away to a deserted island where there is no prenatal care and have my baby in peace. Sounds silly I know.


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## Stressbucket

Not silly at all. I think a lot of people think of the same thing...if we didn't know this or that, we could just gestate in peace.

Hang in there. Thinking of you all.


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## Marie000

With the blood tests, I was given a chance of my baby having Down's Syndrome of 1:10. I opted not to do the amnio and waited until my daughter was born to find out that she was just fine. 
It wasn't always easy. I wasn't super stressed about it (reading up on DS helped, so did talking to OH about how we would handle a special needs child... it didn't seem like the end of the world) and our 20 week scan showed no abnormality. But it did taint my experience. It sucks to know that when I looked at my newborn daughter, one of my first thought was to figure out if she looked like she has DS. 

I hope everything turns out well for you. :hugs:


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## doushy

Hey hun 

I know how yr feeling as my odds for an abnormality are 1 in 3 they think the highest risk is for Edwards! This is due to finding a exompholos (sp?) which is basically a small umbilical hernia and cpc! Both normal varients on there own but together high risk! I had the amnio on Thursday and I am awaiting results now! It's such a stressful time! Good luck! Xx


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## Physiomom

My next U/S and meeting with the Regional Prenatal Assessment clinic is coming up on Tuesday. I will see my midwife the next day (Wednesday). Getting very nervous. I don't really want another U/S...I'm wishing I had declined all ultrasounds'!


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## Stressbucket

Let us know how it goes.


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## Physiomom

I had my U/S last Tuesday. The specialist said everything looks fine...no problems. I'm happy about that. But it's no guarentee (as he said). I have to go for yet another U/S in Jan (at 34 weeks). Ugh. Still hoping for a homebirth.


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## julesjules100

Hi all

Just wanted to add that the free fetal DNA test goes under the name MaterniT21 and also Harmony. All of these tests are still only screens and are not diagnostic as not giving a 100% accurate result (I have the study for each of these so if anyone wants them please let me know). Harmony has a >99% detection rate and a <0.01% false positive rate, which is better than the prediction rate with combined nuchal. I was panicking too as these tests are not available in the UK until next year. A clinic in London that I used actually shipped the bloods overnight to the Harmony lab in San Diego. 

Physiomom, it may be worth calling the Harmony lab to see if they can advise who in Canada offers the test. If you want me to fish the contact info off the info sheet I can do. 

One final thing, I had one nuchal that gave me a poor result. I went to arrange the Harmony and they wanted to repeat the nuchal as a matter of course (the first was done elsewhere). On the second nuchal alone the risk number went up to 1:2,900. Shocking to have such a wild discrepancy in what are supposed to be standard tests....

J x


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## Mummy of Ange

Don't even get me started on this!

When I was pregnant with Scarlett I didn't have any testing at 12 weeks, at my 29 week scan her nuchal fold was 7.6mm!!

I was made an emergency appointment with a consultant the next day who told me I was high risk (I'm 33), and that the maximum for a fold was 6mm

I declined the amnio as I thought no matter what I will love this baby but the not knowing killed me. It ruined my pregnancy completely.

She was born on 9th may 2012 and is completely healthy

I know it's easy to say don't worry but seriously, if I got told me next pregnancy was over 6mm I wouldn't care less anymore xx


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## Lady H

Everything's crossed for you. I've got the amnio on the 26th. It's such a worrying thing, it takes the pleasure out of the pregnancy. I know everything will be fine for you x


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## Physiomom

Hello all,
I am now 35 weeks, 2 days pregnant. Last week I had an U\S and although the heart was functioning well according to the doctor, there was a small pericardial effusion. He did tell me that that was a marker for Down's Syndrome. He said the baby is growing well and no other problems were identified. In fact, they think the baby may already be 8 lbs! I'm scared about his heart. I understand that sometimes these effusions resolve on their own...and this is the first scan to find the effusion (and they have been watching the heart and bowels closely since they first suspected Down's syndrome). Has anyone had experience with fetal cardiac effusions?


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## Lady H

No experience Pmom but I hope it resolves for you quickly. sounds like he is seeing no other markers xxxx


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## SiBelle

I'm so sorry you are going through this. 
It is nerve wracking. I'm going through the same thing. 
I have decided to just stay positive at this point. Baby deserves to be happy and feel happy thoughts while he's safe in there.


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## Emma867

I've been told today that I have a 1:8 risk if downs following my NT reading and blood results. I opted for the CVS and await the results.

Terrifying and emotional times x


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## Physiomom

Good news everyone! I gave birth to a healthy baby boy on Jan 24th. We are so happy and relieved.


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## julesjules100

Physiomom said:


> Good news everyone! I gave birth to a healthy baby boy on Jan 24th. We are so happy and relieved.

Congrats!!! x


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## Emma867

Congratulations! Xx


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## Lady H

Congrats xxxx


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## Stressbucket

Physiomom said:


> Good news everyone! I gave birth to a healthy baby boy on Jan 24th. We are so happy and relieved.

I am so happy for you!


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## maxalias

absolutely wonderful news x


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## lolpants

Congrats!!! So good to read this as had the news that I have 1 in 5 chance and am going for amniocentesis Thursday 

Lol xx


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## Lady H

Good luck lol, hope its all fine xx


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## Stressbucket

Keep us posted..and take good care of yourself.


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## lolpants

Fab news!! Just been told baby passed the 3 major tests!! :) We were told that if main results ok then the rest should be fine too... 10 days till those!
But at least I can relax a bit! Yey! :)

Lol xx


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## Lady H

Yay it's such a relief isn't it. Xxx


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## lolpants

Lady H said:


> Yay it's such a relief isn't it. Xxx

It sure is! :cloud9:

Lol xx


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## maxalias

absolutely fantatsic news!


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## BabyBoyBlue

Was given a 1 in 19 chance after second trimester blood work came back. I panicked and panicked. I will be turning 33. Got rushed in for a dating ultra sound only to find out I was 6 days earlier then I thought. Dr. Said it was not enough to redo the blood work but probably made a big difference. After talking to a genetic councillor, decided to have an amnio. Got the fish test results today and all came back clear!!!! What a relief  only someone who is going through this really knows what it's like.


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## Elodie

My test came back as 1/40 risk (1/110 on age alone, I'm 38). I had the Harmony blood test done last week (£650 later) and have another week to wait for the results. I didn't want an amnio as didn't want to risk the baby. I'm 14+5. I love this little baby, it's my first, it took 2.5 years to conceive, so whatever happens I will love and care for the baby even if he/she is not perfect.

It is just horrible waiting though. I actually said to my parents the other day that I just want to go to a desert island with the baby and for everyone to leave me alone!

Stupid statistics just freaking everyone out are not really helpful.


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## gertrude

I had a 1:5 back in Jan from quad test, and I had the amnio which showed baby had DS. We took the decision to end the pregnancy. I know that choice isn't for everyone, but the reason I'm posting is that if anyone has any questions please just ask. I gave birth to her at 17.5weeks.


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## twinkletots

I I know of a lot of women who have had high risk odds and had a baby without ds. During my last pregnancy I had low risk odds and no soft markers yet gave birth to a baby girl with Down's syndrome diagnosed post natally. She is ten months old and an adorable addition to our family.
Also wanted to be here to offer a balanced view of what it's like to have a child with Down's syndrome for anyone who finds themselves in the situation and doesn't wish to terminate.
Chances are tho that baby will be fine. The whole odds thing is pretty inaccurate!


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## littleone2010

We had a 1:13 risk after screening. We chose to have the cvs (which I would not recommend and would never have again) and it showed baby was fine. It was such a worrying and dark time for us. It is very inaccurate.


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## kit10grl

littleone2010 said:


> We had a 1:13 risk after screening. We chose to have the cvs (which I would not recommend and would never have again) and it showed baby was fine. It was such a worrying and dark time for us. It is very inaccurate.

Its not that the screening is inaccurate it gives odds not a certain answer. Just also to point out that amnios do not give 100% clear answers either. They do not test for all conditions. We had a clear amnio which tested for the regular things. DD was born with another condition that has 1 in 15,000 odds of happening.

Even with odds as 'good' as this someone still has to be that 1.


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## gertrude

kit10grl said:


> littleone2010 said:
> 
> 
> We had a 1:13 risk after screening. We chose to have the cvs (which I would not recommend and would never have again) and it showed baby was fine. It was such a worrying and dark time for us. It is very inaccurate.
> 
> Its not that the screening is inaccurate it gives odds not a certain answer. Just also to point out that amnios do not give 100% clear answers either. They do not test for all conditions. We had a clear amnio which tested for the regular things. DD was born with another condition that has 1 in 15,000 odds of happening.
> 
> Even with odds as 'good' as this someone still has to be that 1.Click to expand...

I just came here to say this! An amnio only tests for 3 specific chromosome issues. It can't test every possibility. The quad test does give false positives, but surely the more people checked is a good thing? Better to have a false positive than a false negative after all.

But yes, ultimately, even with 1:1000 someone will be the 1.


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## littleone2010

kit10grl said:


> littleone2010 said:
> 
> 
> We had a 1:13 risk after screening. We chose to have the cvs (which I would not recommend and would never have again) and it showed baby was fine. It was such a worrying and dark time for us. It is very inaccurate.
> 
> Its not that the screening is inaccurate it gives odds not a certain answer. Just also to point out that amnios do not give 100% clear answers either. They do not test for all conditions. We had a clear amnio which tested for the regular things. DD was born with another condition that has 1 in 15,000 odds of happening.
> 
> Even with odds as 'good' as this someone still has to be that 1.Click to expand...

After all I went through, I'm well aware of how it works. I didn't word it properly. I just meant that even with high odds it's doesn't mean that you will be that one.


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## littleone2010

And also, it works the other way, my MW said she had a patient with a very low risk and they were still that one. The screening obviously didn't pick up anything there did it?


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## kit10grl

littleone2010 said:


> And also, it works the other way, my MW said she had a patient with a very low risk and they were still that one. The screening obviously didn't pick up anything there did it?

yes but it was a low risk result not a no risk result.

The point is they give a 'risk' factor. The risk factor for DD's condition is so low that most of her doctors hadnt even heard of her condition till she came along. Its just unfortunate that a lot of people assume a clear amnio means a genetically perfect child.

I was simply pointing out that no test can give '100% healthy baby results' and so often i see people on here make that claim on the back of an amnio test. Its misleading


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## JViti

Physiomom said:


> I am 36 years old and 22 weeks pregnant with my 3rd child (4th pregnancy, had one early miscarriage). I did not do any of the testing at 12 weeks. At my 20 week ultrasound, they noted that the nuchal fold thickness was 6.5mm (a soft marker for DS). The also said that the cardiac axis was 30 degrees (not the usual 45 degrees) but they don't seem concerned about it. We saw a genetic counsellor and doctor at a regional prenatal screening clinic. They said the baby's risk for DS is 1:17 or 6%. The doctor said he "was not anxious" about this pregnancy, so we opted not to have the amnio (which he seemed to agree was a good decision). Now we have to wait until the baby is born to find out if he has DS. Has anyone been through this? Has anyone with a 1:17 risk every had a baby without DS?

Hi. I am sorry you are living with the anxiety. However, a friend of mine was told that her son would NO DOUBT have DS. I think the risk was 1:3. It was something like that, it was in the single digits. They gave her the option to terminate, but she refused. She said that if it was Gods will for her to have a baby with DS, then so be it. When he was born, it turned out that he did NOT have DS. Also remember it this way...1:17 means that if 17 women had that same result, only 1 of the babies would have DS. Dont lose hope. I know its a higher risk than you would prefer, but its not conclusive. I will keep you in my prayers!!!


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