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?

 

[Jennifer01]

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

 

[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.

 

[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.

 

[Stressbucket]

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.

 

[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.

 

[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/

 

[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. it's such a worrying time for you.

 

[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.

 

[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.

 

[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.

 

[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.

 

[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

 

[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'!

 

[Stressbucket]

Let us know how it goes.

 

[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.

 

[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

 

[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

 

[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

 

[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?