1 in 30 risk for downs? Help

[SloanPet77]

Hello all,

This is my DH and my first pregnancy that has made it past the 10 week mark. We are 14 weeks. I had the NT scan and first genetic blood draw done and the ultrasound results came back ok, 1.5 measurement however; the Dr. office called me almost in a panic and said our chances of having a downs syndrome baby is 1:30 risk. I am 37 and DH is 39. We have an amnio booked for this Thursday but my question is, has anyone received these kind of odds 1:30 and had the amnio come back as negative for downs?

thank you

 

[CarlyP]

Hello, I had a 1 in 30 also for my daughter, we decided against CVS/Amnio and opted for 2 growth scans with a specialist, we were told she would look for markers on baby, I had the first at 18 weeks and the last at 21 weeks, both times she told us that she could see no markers. We also got tons of pictures

My daughter was born without downsyndrome. I remember how worried I felt as I worked in a special needs residence at the time so was very close to home. If you need to pm me that's fine

Also a 1 in 30 chance means there is only 3% chance that your baby will have it

 

[SloanPet77]

thank you very much. We were offered additional blood tests prior to going with the amnio but I don't want to waste any time. We really want to know as early in the pregnancy as possible, for obvious reasons 1:30 just seems really bad, I am trying to be hopeful but also preparing myself for the worst.

 

[kit10grl]

To be honest having a child with downs syndrome is not 'the worst' I know your very scared about the unknowns right now but please try to be sensitive to situations of others. There are many parents of children with additional needs on here and could find the things you have said very upsetting

 

[Laylagirl]

To be honest having a child with downs syndrome is not 'the worst' I know your very scared about the unknowns right now but please try to be sensitive to situations of others. There are many parents of children with additional needs on here and could find the things you have said very upsetting

I don't think OP implied that having a child with Down syndrome is the worst. I think she meant she's preparing for the worst case scenario...the best case (as in all pregnancies is a healthy baby) and the worst case is a baby born with any disabilities...

It's sad that you feel she is being offensive to those with a special needs child..but reading her situation, she is obviously concerned and rightfully so...a lot of us are concerned for the health of our babies....and there are lots of threads voicing these concerns....

I hope everything turns out ok with the baby, and I'm with you on wanting to know with the amnio...better to be PREPARED, than waiting till birth..in my opinion...

Of I offend any mothers here, I apologize....

 

[SloanPet77]

Thank you Laylagirl..........

 

[mandaa1220]

I totally understand where you are coming from in terms of wanting to know; however, I could see how the comment about how you want to know for "obvious reasons" could be upsetting to a parent with a disability if they misinterpreted it iykwim. I'm assuming what you meant was that you want to be prepared and know as soon as possible, but sometimes what you read on the internet can be easily misinterpreted.

I hope everything is good with the amnio! Best of luck. While 1 in 30 seems like a huge chance, just remember that it's not that huge realistically and there's a 97% chance everything is fine.

 

[Elodie]

Hello all,

This is my DH and my first pregnancy that has made it past the 10 week mark. We are 14 weeks. I had the NT scan and first genetic blood draw done and the ultrasound results came back ok, 1.5 measurement however; the Dr. office called me almost in a panic and said our chances of having a downs syndrome baby is 1:30 risk. I am 37 and DH is 39. We have an amnio booked for this Thursday but my question is, has anyone received these kind of odds 1:30 and had the amnio come back as negative for downs?

thank you

I had a similar experience - I am 39 (first pregnancy too) and the risk came back as 1 in 40 when I was 14 weeks. It was terribly upsetting and a very difficult time. I decided that I would not terminate the pregnancy regardless and I did not want to risk an amnio or cvs (these are just statistics and are estimates; I weighed up a risk of 2.5% vs a miscarriage risk from an invasive procedure of 2%).

We opted to have the Harmony blood test (fetal DNA test) at great cost as opposed to the amnio because I knew I wouldn't terminate regardless. It came back as 1 in 10,000. The extra 2 weeks wait was excruciating and the most difficult period of my life, but I'm glad we made the right decision as the baby was fine.

I was told afterwards that my risk on age alone would have been 1/110. If I had know this (1/100 being 'high risk'), I would have opted for the blood test at 10 weeks and saved all the waiting. A large proportion of your result is based solely on your age. Your scan measurement is really low; mine was 2.4mm.

I know so many women who have had similar results and everything has been fine. One of them had 1/2, another 1/3, another 1/5, and 1/20.

All the best, just try and focus on the positive, you have a HUGE chance of a perfectly healthy baby!
xx

 

[USAFWife319]

I opted out for all that testing because I didn't want to worry during my pregnancy. I hope everything goes well for y'all!!!

 

[SonAmyMom]

My aunt had the blood tests come back as a high risk for Down's Syndrome with her first (she was 33 at the time I believe, it was 11 years ago) and they opted not to do the amnio. They had a perfectly normal, healthy, beautiful little girl.

Which blood test was it you had done? The tri-screen is usually the one that gives odds like 1-in-30, but you also could have gone with MaterniT21, which is more accurate, so I'm curious which reporting this is, it may help answer the question better.

(I have a 2 1/2 - year old with a chromosome disorder that isn't caught in prenatal testing. He is mildly-moderately disabled, but he is such a sweet angel and a special part of our family. I only mention this to reassure you that, if it does come back positive for Down's Syndrome, it's still okay. You just have to adjust and prepare )

 

[kit10grl]

To be honest having a child with downs syndrome is not 'the worst' I know your very scared about the unknowns right now but please try to be sensitive to situations of others. There are many parents of children with additional needs on here and could find the things you have said very upsetting

I don't think OP implied that having a child with Down syndrome is the worst. I think she meant she's preparing for the worst case scenario...the best case (as in all pregnancies is a healthy baby) and the worst case is a baby born with any disabilities...

It's sad that you feel she is being offensive to those with a special needs child..but reading her situation, she is obviously concerned and rightfully so...a lot of us are concerned for the health of our babies....and there are lots of threads voicing these concerns....

I hope everything turns out ok with the baby, and I'm with you on wanting to know with the amnio...better to be PREPARED, than waiting till birth..in my opinion...

Of I offend any mothers here, I apologize....

I didnt say It was offensive i said it was upsetting. Not the same thing. Yes everyone wants to have a healthy baby at the end of the pregnancy but again the implication that a child with a disability is the worst thing that could happen makes a huge statement about my life. My childs condition almost killed her, there are other conditions that are incompatible with life, those are much worse outcomes than life with a child with disability. Its not 'sad' that i find issue with the implication that my life is something that should be pitied or seen as a 'worst case scenario' because its different to other peoples. I know how all the concerned parents in this thread feel (i had to go through a pregnancy too).

I totally understand where you are coming from in terms of wanting to know; however, I could see how the comment about how you want to know for "obvious reasons" could be upsetting to a parent with a disability if they misinterpreted it iykwim. I'm assuming what you meant was that you want to be prepared and know as soon as possible, but sometimes what you read on the internet can be easily misinterpreted.

I hope everything is good with the amnio! Best of luck. While 1 in 30 seems like a huge chance, just remember that it's not that huge realistically and there's a 97% chance everything is fine.

To be honest my reading of 'obvious reasons' was a termination in the case of a positive result. I chose not to comment on it as its not my place to judge someones decisions. Again the implication is that clearly people see something wrong with children with disablities. and yes i find that upsetting.

I would also like to point out as people have said that people wth those results can still have 'normal, healthy babies' The implication is that babys with Downs are not normal or healthy. Children with Downs can be born with no health complications and be perfectly healthy. They are also normal, whatever that is. Its this kind of language in threads like this that people find upsetting.

All i did was ask for a bit of sensitivity.

 

[snowflakes120]

My NT scan showed increased fluid and put me at high risk - we didn't even do the blood work bc my fluid was higher than normal. We did the CVS test right on the spot. Results from DNA testing and the Microarray all came back with baby girl as "normal".

 

[lovelyg4m3r]

I know this seems like a really scary time for you right now, but remember, 1:30 means you still only have a 3.33% chance! Seems a bit less scary when put that way. I came back with a risk like that only for Spina Bifida. I was absolutely terrified. There's no way we were gonna have a wheelchair accessible place where we live and my OH was very concerned about raising a child with a disability. My OH has Aspergers and it makes a lot of things hard for him to process. Its TOTALLY okay to be worried about things like this! They decided to send me in for an ultrasound asap and an amnio after if they thought it looked risky. (I didn't want the amnio anyways, the risks were scary). I kept calm and tried not to think about it until my u/s and everything looks great. Have had 2 so far and there's no spinal bulging, no splaying, and no lemon head. He looks 100% healthy

Like I said, 1:30 is 3.33%! Very low, so try not to stress about it too much my blood test came back really positive for spina bifida and they have no idea why cause of how healthy he looks. Sometimes you just get false positives

 

[Jennifaerie]

Having come back as high risk myself, and having had a nephew who was very poorly I can understand both sides of the discussion. After my blood draw I came back as a downs risk of 1 in 40. I'm 27, we opted out of cvs or amnio and had the nifty blood test.
Our detailed scan showed no markers for a chromosome issue (we felt much better after seeing that her heart was developing as it should - not because of it being a marker for downs but we were relieved that she was now less likely to have a heart condition, Ds or no ds.)
This baby girl has typical chromosomes bit it's not the end of our journey they're now watching for other issues that could confuse the blood tests.

I'm sure one way or the other everything will turn out ok xxx

 

[GeralynB]

I opted out for all that testing because I didn't want to worry during my pregnancy. I hope everything goes well for y'all!!!

I also opted out of the testing because I don't want to worry. I'll deal with things as they come if I have to.

 

[StranjeGirl]

To be honest having a child with downs syndrome is not 'the worst' I know your very scared about the unknowns right now but please try to be sensitive to situations of others. There are many parents of children with additional needs on here and could find the things you have said very upsetting

I don't think OP implied that having a child with Down syndrome is the worst. I think she meant she's preparing for the worst case scenario...the best case (as in all pregnancies is a healthy baby) and the worst case is a baby born with any disabilities...

It's sad that you feel she is being offensive to those with a special needs child..but reading her situation, she is obviously concerned and rightfully so...a lot of us are concerned for the health of our babies....and there are lots of threads voicing these concerns....

I hope everything turns out ok with the baby, and I'm with you on wanting to know with the amnio...better to be PREPARED, than waiting till birth..in my opinion...

Of I offend any mothers here, I apologize....

I didnt say It was offensive i said it was upsetting. Not the same thing. Yes everyone wants to have a healthy baby at the end of the pregnancy but again the implication that a child with a disability is the worst thing that could happen makes a huge statement about my life. My childs condition almost killed her, there are other conditions that are incompatible with life, those are much worse outcomes than life with a child with disability. Its not 'sad' that i find issue with the implication that my life is something that should be pitied or seen as a 'worst case scenario' because its different to other peoples. I know how all the concerned parents in this thread feel (i had to go through a pregnancy too).

I totally understand where you are coming from in terms of wanting to know; however, I could see how the comment about how you want to know for "obvious reasons" could be upsetting to a parent with a disability if they misinterpreted it iykwim. I'm assuming what you meant was that you want to be prepared and know as soon as possible, but sometimes what you read on the internet can be easily misinterpreted.

I hope everything is good with the amnio! Best of luck. While 1 in 30 seems like a huge chance, just remember that it's not that huge realistically and there's a 97% chance everything is fine.

To be honest my reading of 'obvious reasons' was a termination in the case of a positive result. I chose not to comment on it as its not my place to judge someones decisions. Again the implication is that clearly people see something wrong with children with disablities. and yes i find that upsetting.

I would also like to point out as people have said that people wth those results can still have 'normal, healthy babies' The implication is that babys with Downs are not normal or healthy. Children with Downs can be born with no health complications and be perfectly healthy. They are also normal, whatever that is. Its this kind of language in threads like this that people find upsetting.

All i did was ask for a bit of sensitivity.

I'm not sure why anyone would find this upsetting? Finding out that you are at risk for any issue is devastating. If OP gets a down syndrome diagnosis, it means she is at much higher risk for a miscarriage, stillbirth, child with severe medical issues that may need surgery right after birth, a child who may die before the age of 5 etc etc. How is this not "worst case scenario"?? You said yourself that your dd almost died from her condition. That is devastating and that is exactly what we are afraid of if we hear we are at high risk for something. And "normal" means exactly that, normal. Not good, not bad, but falls within a range that most fall in. A chromosomal issue is not the norm. Neither is a gifted child. It doesn't mean it's necessary a bad thing, just different- and a person needs to adjust and plan accordingly. To me these are "obvious reasons" for wanting to know. I wouldn't terminate a pregnancy for down syndrome, but I would sure want to know ahead of time so I could do some research and prepare for something I know very little about. I hope I'm not offending anyone, but I just felt that it was important to state that when people are using words like this it is in no way putting down children with disabilities. It is just stating that it is very scary to hear that your child could have something that could cause harm, and even death, to him or her in anyway.

OP I really hope everything turns out ok. I do know people who got odds like that and things were fine. Odds are in your favor for everything to be ok, but I know you won't feel at ease until knowing for sure.

 

[Luvspnk31]

I think the fact that she was insinuating she would terminate the pg if the rest was positive was the upsetting part. And to clear the air, that's exactly what she was saying. She already posted in another thread that was locked by the mods. Regardless of any of our personal feelings on the subject, the fact is there are lots of women on here who would love to have ANY child, and it's very upsetting when someone discusses terminating. That's why it's banned in the rules. The ethical losses might be a better forum for this discussion.

 

[StranjeGirl]

I think the fact that she was insinuating she would terminate the pg if the rest was positive was the upsetting part. And to clear the air, that's exactly what she was saying. She already posted in another thread that was locked by the mods. Regardless of any of our personal feelings on the subject, the fact is there are lots of women on here who would love to have ANY child, and it's very upsetting when someone discusses terminating. That's why it's banned in the rules. The ethical losses might be a better forum for this discussion.

I see...I didn't realize that!

 

[ab75]

I didn't have testing with any of my children, with this one however the sonographer said the neck looked fine. It wouldn't have made any difference to me either way. It has taken me a lot of heartache to finally have my children(5 losses) and I would be having this one regardless of test results.

 

[Scout]

My risk was 1:11 for trisomies 13 and 18 and 1:17 for down syndrome. I was 45 when I got pregnant and 46 when I delivered. My risk was soley age related and that is a big part of your as well. Your scan results were really good. I chose the maternit21 blood test and results were typical chromosomes. She's now a healthy, happy 13 month old. I wish you the best.