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abnormal NT results

I had the NT screening. The genetic specialist said my sonogram was perfect. The nasal cavity, measurements, and all around it was normal. I was at ease. Then 1week later the dr. called and said my blood work came back abnormal. 1/89. I have been besides myself all day. I am 39 years old and have 2 other children. My other children are perfect. I scheduled an amino for august. I am terrified of the risk of it. Should i have the amino?
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Avatar universal
Hi Sandi
I just got my results and I am so strees out. this doctor called me today and almost pushing me to have an amnio( which i am scare to do)
these are my numbers:

42y/o
14 weeks pregnant
nucal test  118


blood test results:
test for SOD ( syndrome of down) is :              1 in 881 ( withing range)

test result for trisomy is;                                 1 in 109 (increased risk)

what do you think?...please comment about my numbers this doctor really scare the life out of me.
Helpful - 0
1227139 tn?1462334630
Hello again roee86,

I wanted to also mention, that under normal circumstances, your risk (before your blood work came back) for your age of 39 (and when we talk about risk and maternal risk by age, the medical world refers to this risk by your age at the time of delivery.) your odds of having a baby with Ds (determined by fetus as opposed to live birth) was 1:100.

So your risk, while a tiny bit elevated from the original number isn't that much elevated.  If you consider, having a risk of 1:900 when 30 years old and then being told 1:89, that would be a greater cause for alarm, based on the increase.  If you take a look at a maternal risk chart here that I frequently use from a doctor:  http://www.ds-health.com/risk.htm  you will notice that your risk while elevated the increase is not dramatic.

I hope that gives you a bit more peace of mind.  I know that having any odds, whether low or high, is frightening.  But, before your blood work came back, your risk was 1:100 which was 1%.  Think of it this way, 1:89 is just about 19% percent chance. and when we talk about chance, it's purely statistical.

Please contact me if you would like more references, or just to chat as I mentioned.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
Helpful - 0
1227139 tn?1462334630
Hello Roee86,

I have so much I could tell you about this.  Often times we get results from either side, the blood or the ultrasound, and we either have things that put our minds at ease, or it really scares the living daylights out of us.

Happynifer had posted your very same question a bit ago, and I had told her the same thing.  Here is what I tell moms.  If you have elevated risk, the only way to know for sure is to have the amnio.  If you have any miscarriage risks, then it may not be the best choice for you, but normally the risk of an amnio only carries an additional .5% risk on top of the normal risk for loss.

This is a post I had put together that explains what I tell moms about Amniocentesis.
And additionally, as Happynifer said, before you decide whether or not you would like to do the amnio or any other definitive testing, there are many markers associated with Down syndrome that you can opt to look for on ultrasounds.  (I have the list of these markers if you are interested.)  Also, it's important to note, that blood work doesn't always correlate with a diagnosis of Ds, but it does assess the risk involved.  I have had many moms who had blood work like you did (or the IPS testing), which yielded a higher risk for Ds, but they went on to have a baby without Down syndrome.  Just as that happens, normal facial features like nasal cavities and NT scans like mine, proved to me to be quite the surprise when we got the results back from an amnio that I chose to do purely because of my age at the time, of Down syndrome.  But I encourage you to read my post here first:
*****************
I am one of those (I would now say so very lucky moms) who had a normal level two/high risk ultrasounds and NT scan and had an Amnio only because of my age of 35 at the time, and learned quite by surprise that we were having a baby with Ds.  I too have no family history on either side - so it was really a surprise.  But I too, (both Dad and I) knew we wouldn't terminate, but as a person who needed to know, I knew I would be able to use that time to be able to prepare, learn and organize everything from medical exams, medical preparedness at birth and also organize "early intervention" which here in our location had an eight month waiting list.
I had my Amnio at 16 weeks and just a week and a half later, learned that I was the 1:385.  
It is important for me to express, how "typical" our son has been.  He was like any other baby after birth, care was the same but we did have appointments in the beginning, that dealt specifically with Down syndrome.  Because there are so many developments in the Interventions area, our son has benefited and has met his milestones.  Most often, delays with gross motor skills like walking or crawling are affected because of something called "Hypotonia" or low muscle tone.  

Back to the Amniocentesis, it is completely a decision that is up to you, and no matter what you decide, be comfortable in the decision you make.  Do not let anyone push or sway you in one direction or the other.  Some will try and tell you, you mustn't do it, other will tell you you should.  What I tell moms is, yes there are risks.  The risk is an additional 0.5% of loss added to the normal loss percentage.  You have to consider, are you at any additional loss risk for miscarriage?  Does the benefit out weigh the risk?  For me it did.  The benefits for me were wonderful, and I am (to this day) extremely glad we did, and were able to prepare not only ourselves, but our family and friends - who love this little boy like he is their own!  As well, I'd like to mention, there are other diagnostic tests which can help to assess whether there are more risks of having a baby with Ds.  But, you have to remember, when it isn't a definitive type of test (like an Amnio) those results will be possibilities, not actualities.  Some people are okay with that.  
Some people who wait until birth to find out (who said that they would prepare and learn everything they could) still do go through the "grieving" process when they learn their baby has Ds.  No matter when you learn about it, there is always that shock factor.  The difference for people who get an amnio and find out, is that the shock factor occurs very early on, and there is time to adjust, grieve the loss of the "normal" child and then move on.  While the same process happens without an amnio, the process of "grief" is longer, simply because you don't have the personal time to really grieve if you need to, because you have to think about your baby.  Doing it for me before hand, gave me the time and "Individual" time to be sad, mad, happy and whatever I first felt, without feeling guilty that there was someone else to look after.  It was "me" time.  I counsel parents of Ds diagnosis before birth and after.  And one thing I have learned is, (purely by experience and statistic) the parents who had prenatal diagnosis were much better able to deal with the result, and also were more comfortable in the end.  The parents who learned at birth, never seemed to get the chance to express their feelings properly, or to get the comfort or support for themselves, because they now had their little one to take care of, and it seems to me, they never took care of their own selves or emotions.
This is a personal observation as well as a professional one that my friend in Early Intervention sees daily as well as the genetics counsellors tell me.

So there are a lot of reasons - for both sides why it is good to do it and not to.  What I hope I have provided you with is the "real" and factual reasons of both sides.

I have a lot of expertise when it comes to prenatal testing and genetics, and I have lots of research (personal and otherwise) to fall back on.  If you have any questions regarding your testing, or are just looking for some support during this time, please send me a message.  I know what it is like to go through this stage of your pregnancy, and be so concerned.  If anything at all, even if you want to vent, I will be here to help you and be a shoulder if you need one.

If you are interested in seeing what it may be like to have a child with Down syndrome, I have a blog that I update nearly daily.  I invite you to take the time to look at it.  Please visit my profile or the Down syndrome Group or Community to see the address.
http://welcometoourhouse-myjournal.blogspot.com/

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
Helpful - 0
1278093 tn?1294320384
i had this same issue...but my risk was a little lower at 1:165
i went in for the amnio at 16 weeks 3 days and after a 40 minute scan looking at a perfect baby, we opted not do the amnio due to the risk.  we had no intention of terminating the pregnancy regardless, we just wanted to know to his prepare.  my doctor is confident in being able to detect down's before she is born and is following her closely on ultrasound to make sure she develops normally.
if i didn't have the option of repeated scans, i probably would have done the amnio.
good luck with your decision, it's not an easy one
Helpful - 0
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