Down Syndrom 1:37 Please Help

[Sandie_Cali]

Hi Everyone,

I am 44yrs old and my NT Scan Measurements were 1.5mm, after my bloods I have a 1:37 chance of Down Syndrome.

I was given the option of Genetic Counseling and Amnio or to wait for the second trimester scan. I am scared, please help, I am not understanding the results, does this mean I am high risk?? Or is my age the only factor in this??

 

[jacqui0122]

Hi, I also am at high risk cause of my age.
I am 16 weeks pregnant and sooooo worried. I have two beautiful healthy boys 13 and 10. At 11 weeks had blood work and u/s done. Nasal bone was present and neck thickness in normal range. Blood and age put my risk of 1:120 of having a baby with ds. At 16 weeks I had another u/s done and they found a EIF -soft marker in the heart of my baby boy. Still have not gotten my blood work yet. And the soft marker will increase my risk. Can not stop crying! I will not have an amnio as I feel I could not terminate my baby anyway so I do not see the point with the added risk of losing the baby. Could not live with myself if I miscarry. Knowing at my age I will most likely not try again. The stress is unbearable. I am trying to enjoy the pregnancy and it seems so difficult. I loved being pregnant and I am sorry I did not try for the third when I was younger. I pray that all is well and that I am worrying for no reason. I wish I would of not tested at all. I want to believe that god gives us what we need to grow and become better people but its hard not to cry and blame myself for trying to have a baby at my age. I am so torn and need someone to talk to. My husband is not wanting to say anything of think about it. He tells me the baby is going to be fine. But what if he's not?

 

[midori1999]

If it reassures either of you, I had my third son aged 27, having had very low risk results at screening tests, nothing shown up on scans etc. and he was born with Downs Syndrome and two holes in his heart. The screening tests are not definitive and a very high proportion of women who have a high risk from the screening do not have a child with Downs.

Having a child with Downs really is no big deal. It is not the monster people expect it to be or that it is made out to be. I would actually say it has had a positive effect on our lives, my older sons' included.

My sons are from my first marriage and my current (second) husband completely accepts all of my sons and agreed during my recent pregnancy that we didn't need to have an amnio (which is automatically offered to me as I already have a child with Downs) as if our baby had Downs it really wouldn't matter.

 

[Emx]

I was given a 1:50 risk of having a baby with Downs - this was after a nuchal scan and bloods. I declined to have a CVS or amnio and to be honest as soon as we had decided against the tests my stress levels decreased massively... I guess I was more concerned at the risks to the baby the tests bring than I was about the possibility of having a DS baby..

Our 20 week scan was very ressuring as it showed no soft markers for DS and so I started to really look ahead positively and enjoy my pregnancy then...

Lani was born on 2nd April, 2010 and was perfectly healthy, definitely not DS...

I can remember very, very clearly the stress of receiving the results - I had to go onto Beta Blockers for 6 weeks because I was getting really bad heart palpatations from the stress.. Its a horrible time and I would just urge you to come to a decision about further testing as soon as you can and then at least you can get a definitive answer if that is what you feel you need for your sanity or as in my case, you decide against tests, you can carry on and make your pregnancy as positive as possible.

Age is a huge factor in the DS risk results... I was 36 so automatically I would have been given a 1:150 risk (anything under 1:250 is classed as high risk) just on my age alone... at 45 the risk is automatically 1:25, so if you think about it realistically at 44 1:37 is actually less risk than that of your age alone..

If you need a chat please feel free to PM me xx

 

[Penfelyn]

You may be interested in this blog. It has really changed my view on having a child with downs.

https://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

 

[Sandie_Cali]

Hi, I also am at high risk cause of my age.
I am 16 weeks pregnant and sooooo worried. I have two beautiful healthy boys 13 and 10. At 11 weeks had blood work and u/s done. Nasal bone was present and neck thickness in normal range. Blood and age put my risk of 1:120 of having a baby with ds. At 16 weeks I had another u/s done and they found a EIF -soft marker in the heart of my baby boy. Still have not gotten my blood work yet. And the soft marker will increase my risk. Can not stop crying! I will not have an amnio as I feel I could not terminate my baby anyway so I do not see the point with the added risk of losing the baby. Could not live with myself if I miscarry. Knowing at my age I will most likely not try again. The stress is unbearable. I am trying to enjoy the pregnancy and it seems so difficult. I loved being pregnant and I am sorry I did not try for the third when I was younger. I pray that all is well and that I am worrying for no reason. I wish I would of not tested at all. I want to believe that god gives us what we need to grow and become better people but its hard not to cry and blame myself for trying to have a baby at my age. I am so torn and need someone to talk to. My husband is not wanting to say anything of think about it. He tells me the baby is going to be fine. But what if he's not?

Hi Jacqui, I totally understand what you are going through, my OH kinda made me feel like it was my fault. I am so scared, but holding onto hope. What do you mean by soft marker?? and in the heart what did they find?? I am so sorry to ask but I am so new at this and dont understand what is going on.

I wish I had not taken the test, my pregnancy was going along with little or no hitches. The worst part about this is that I got this news and then my job is cutting positions, I got a Voluntary resignation given to me today, I have til July 16th to sign it and if I do I lose my benefits on July 31st. All department secretaries got this. I am so stressed right now.

 

[Sandie_Cali]

I was given a 1:50 risk of having a baby with Downs - this was after a nuchal scan and bloods. I declined to have a CVS or amnio and to be honest as soon as we had decided against the tests my stress levels decreased massively... I guess I was more concerned at the risks to the baby the tests bring than I was about the possibility of having a DS baby..

Our 20 week scan was very ressuring as it showed no soft markers for DS and so I started to really look ahead positively and enjoy my pregnancy then...

Lani was born on 2nd April, 2010 and was perfectly healthy, definitely not DS...

I can remember very, very clearly the stress of receiving the results - I had to go onto Beta Blockers for 6 weeks because I was getting really bad heart palpatations from the stress.. Its a horrible time and I would just urge you to come to a decision about further testing as soon as you can and then at least you can get a definitive answer if that is what you feel you need for your sanity or as in my case, you decide against tests, you can carry on and make your pregnancy as positive as possible.

Age is a huge factor in the DS risk results... I was 36 so automatically I would have been given a 1:150 risk (anything under 1:250 is classed as high risk) just on my age alone... at 45 the risk is automatically 1:25, so if you think about it realistically at 44 1:37 is actually less risk than that of your age alone..

If you need a chat please feel free to PM me xx

Thank you, so much, I have been flip flopping with the idea of amnio, and I cant see myself doing it, one because I dont want to lose my baby, and two I am so frightened!! And lastly, I feel at peice and would welcome my child with open arms and I know based on my OHs reactions I would have to do this alone. My other burden in my heart is that when I die my children would have to take care of my child if the had Downs. I am going to talk to OH about this, because a parent no matter what should love their child unconditionally, I know I will and if he is feeling this way now, I dont feel he deserves to be around even if the baby comes out fine. You cant pick and chose your children, and you cant pick and choose which ones to disgard only because they have an illness, its just not right.

 

[Sandie_Cali]

If it reassures either of you, I had my third son aged 27, having had very low risk results at screening tests, nothing shown up on scans etc. and he was born with Downs Syndrome and two holes in his heart. The screening tests are not definitive and a very high proportion of women who have a high risk from the screening do not have a child with Downs.

Having a child with Downs really is no big deal. It is not the monster people expect it to be or that it is made out to be. I would actually say it has had a positive effect on our lives, my older sons' included.

My sons are from my first marriage and my current (second) husband completely accepts all of my sons and agreed during my recent pregnancy that we didn't need to have an amnio (which is automatically offered to me as I already have a child with Downs) as if our baby had Downs it really wouldn't matter.

I agree with you, I will love my child no matter what.

 

[Sandie_Cali]

You may be interested in this blog. It has really changed my view on having a child with downs.

https://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

Thank you so much Penfelyn, I love this story, it made me cry and touched me. Thank you so much

 

[Sandie_Cali]

Just wanted to let you ladies know I have a second scan and blood work with a High Risk Genetics Counselor on July 9th with bloods and another ultrasound.

 

[coccyx]

Would like to say a good friend of mine had an amnio as was given a 1in 30 chance ofa baby with Downs. Amnio gave her a definate answer and gave her and family time to research condition and get used to idea before their son was born. She would never have terminated, but her and hubby found it stressful not knowing.

 

[Sammy2009]

Good luck ladies

 

[Hoolie]

We were 1:15 chance of having a baby with Downs. We opted for an amnio, went through the worry of waiting for it and then the procedure itself and the 3 weeks following where there is an increased chance of miscarriage. We waited three weeks for all the results and they came back as no major chromosonal abnomalies found.

Since then we have been monitored really well with growth scans.

My results were influenced mainly by my blood test results. The scan appeared normal but my bloods showed double HCG levels and a quarter protien levels that it should have been, both being indicative of disability or growth problems.

Well I'm 40 +3 now and the baby's growth is okay.

The way we tried to look at it was that a 1 in 15 chance meant that there was a 93% chance of not having a baby with Downs. For you, a 1:37 chance is a 97% chance that your LO won't have downs.

It is a worrying time and you do start to consider all the options but I'd really suggest to you to just take one thing at a time and face each result as it comes through rather than pre-empting the outcome. This we learnt by the third growth scan. As the pregnancy progressed we had to just assume everything would be okay unless definately told otherwise, else we'd have gone mad. Each scan was a milestone and we went form one to the other, not looking too far ahead.

Good luck. The chances are that it'll be a good outcome for you with those odds.

Alex

 

[midori1999]

[Thank you, so much, I have been flip flopping with the idea of amnio, and I cant see myself doing it, one because I dont want to lose my baby, and two I am so frightened!! And lastly, I feel at peice and would welcome my child with open arms and I know based on my OHs reactions I would have to do this alone. My other burden in my heart is that when I die my children would have to take care of my child if the had Downs. I am going to talk to OH about this, because a parent no matter what should love their child unconditionally, I know I will and if he is feeling this way now, I dont feel he deserves to be around even if the baby comes out fine. You cant pick and chose your children, and you cant pick and choose which ones to disgard only because they have an illness, its just not right.

I think your husband would probably be absolutely fine once your child was born. Everyone has a pre-concieved idea about Downs, usually because they have never had the chance to know very well a person with Downs and have simply seen adults with Downs in town, cafes etc who would not have even been able to have an education due to the amount of prejudice about when they were children, and a lot of these adults don't speak much etc. So, most people form their opinions on that.

All my friends love my son to bits and so do my family. My Grandfather is old fashioned and was actually a little embarrassed to have someone with DS in the family when my son was born, but is now prou dof him and admits he is his favourite grandchild. (even though people shouldn't have favourites!!!)

When they are babies, they are pretty much like every other baby, and they are yours. Your husband would come round if he needed too, I am sure. Men get more scared by things like this, I think.

 

[Sandie_Cali]

We were 1:15 chance of having a baby with Downs. We opted for an amnio, went through the worry of waiting for it and then the procedure itself and the 3 weeks following where there is an increased chance of miscarriage. We waited three weeks for all the results and they came back as no major chromosonal abnomalies found.

Since then we have been monitored really well with growth scans.

My results were influenced mainly by my blood test results. The scan appeared normal but my bloods showed double HCG levels and a quarter protien levels that it should have been, both being indicative of disability or growth problems.

Well I'm 40 +3 now and the baby's growth is okay.

The way we tried to look at it was that a 1 in 15 chance meant that there was a 93% chance of not having a baby with Downs. For you, a 1:37 chance is a 97% chance that your LO won't have downs.

It is a worrying time and you do start to consider all the options but I'd really suggest to you to just take one thing at a time and face each result as it comes through rather than pre-empting the outcome. This we learnt by the third growth scan. As the pregnancy progressed we had to just assume everything would be okay unless definately told otherwise, else we'd have gone mad. Each scan was a milestone and we went form one to the other, not looking too far ahead.

Good luck. The chances are that it'll be a good outcome for you with those odds.

Alex

I was told it was my age that made the factor, but bloods what would be more of a marker for Downs the NT Scan measurements?? 1.5mm Blood?? I have to get a print out of my bloods.

I just dont understand how they calculate the ratio.. I like the way you described the odds of 97%. Thank you.

They changed my genetics counselor appt to tomorrow at 1000, he stated he will not need to do the scan nor the bloods and will discuss the results and options with me.

 

[Trying4ababy]

I had the AFP test done and it came back 1:170 that our baby had down syndrome. My Dr then referred me to a specialist to have a level 2 ultrasound done (they measure everything) The level 2 ultrasound found 3 possible markers for down syndrome one of them being a NT of 5 mm. The specialist advised we have an amniocentesis which to be honest was the last thing DH and I wanted to do. We had the amnio done though because we wanted time to prepare if our baby did have DS or other chromosomal disorde rand after a long 3 week wait we found out our baby was clear of having down syndrome and that our baby looked perfectly healthy and that no abnormalities were found.

 

[tateypot]

I came back as a 1:7 risk of Downs. One of my frustrations was that no one seemed to be able to tell me why the result was so high - I am 35 so knew that 1:7 was much higher than my age risk. I did go for CVS testing and found the whole time very worrying. I also wondered why I had ever agreed to have the NT because the result seemed to cause only worry and provide no answers. I got the short term results in 48 hours and everything was fine. Had my downs risk been higher than 1:100 I am not sure I would have had the test due to the miscarriage risk being 1%.

 

[LoveNTy]

Just lurking..and offering support to people in this special forum.
I have no advice but wanted to wish you tons of luck XO