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level 2 ultrasounds and soft markers
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level 2 ultrasounds and soft markers

our first trimester screen came back with a 1 in 155 risk of down's syndrome and I am 14 weeks pregnant.
I have a level 2 ultrasound scheduled for 7/27 (at 18 weeks 3 days) and am debating whether or not to schedule an amnio. i am 36 and DH is 50 so we know that upped our risk, but we have no family history on either side.
we are unlikely to terminate since this was an IVF baby, but I would like as much time possible to prepare should we need it.
i would not do the amnio until 16 weeks to reduce the risks of that procedure, but i am just wondering if any of you know of someone who had a completely normal level 2 US at 18 weeks and still had a baby with down's?
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1227139_tn?1367231533
Hello Happynifer!

I am one of those (I would now say so very lucky moms) who had a normal level two ultrasound and NT scan and had an Amnio only because of my age of 35, 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.  Becasuse there are so many developments in the Interventions area, our son has benefited and has met his milestones.  Most often, delays with gross motor skiss like walking or crawling are affected because of something called "Hypotonia" or low muscle tone.  

Back to the Amniocentisis, 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.

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 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
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363110_tn?1340924019
Dang Sandi! you get to these so fast, lol. You got all the great things done!
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1278093_tn?1294323984
thank you, that was wonderful and exactly what i needed to read :)
at least i know if we are than 1 out of 155 that i have a group to turn to for support and advice.  i don't think anyone wants a special needs child before they meet them, but once they're born you can't imagine not having that child.
thanks again!
jenna
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1227139_tn?1367231533
Dear Jenna,
I couldn't have said it better than what you just said.
No one ever thinks they want or asks to have a child with Special Needs before they meet them, but once they are born - you are right, it's a world you could not imagine EVER living in without that child.

The book that I am currently writing (I have two other published), "Welcome to Our House", says exactly that.  
Hunter not only changed my life, he saved my life.  I say this freely despite being a police officer, despite having a few family members with different special needs.  He is a gift I didn't even know I had wanted.

I hope, (as I say to many mom's who are in the prenatal stages of testing in their pregnancies) that which ever way it turns out, it's a win-win.  And what ever the result is, I hope you have a healthy baby that makes your world light up.

On a side note:  If you need any additional information regarding the testing, or even a list of the characteristics (that you can use to refer to) please don't hesitate to ask me.  I have one already complied!  There are certain things to look out for at different stages of the pregnancy.  (Some things even certain ultrasound technicians do not frequently know to look for, as I learned.)  Also, we always trust that radiologists who read the ultrasounds and provide us with the results, don't always give the correct interpretations.  I learned this and I was dumbfounded.  To make a long story short, (just to give you an idea of the possibilities) one radiologist MD suggested near the end of my pregnancy that our son had "appeared" to be doing something what they call "clenched fists" which is a marker for genetic abnormalities (but in Trisomy 18 as I later found out).  Just before this point of the testing, we had provided the radiologist with our son's prenatal diagnosis.  I believe, he was biased and looking to "find" things that didn't exist because they didn't "find" things earlier or before the Amnio.  (Perhaps he was attempting to redeem his work, feeling that we would wonder why he was or had been unable to provide us with a better diagnostic view of Ds markers?  I will never know.)  The clenched fetal hands are not what we envision it means.  It is when the fetus closes/puts the thumb over top of the middle and ring finger, and then the index finger and pinkie closes over top of the thumb.  (a weird way to clench the hand closed.)  This type of clenching is found in babies who have T18, the deadlier Trisomy not usually compatible with life.  Thankfully we knew that this wasn't what was actually happening to our son.  This particular radiologist wrote this (appearing to be doing this) on every ultrasound that we had after the diagnosis, so from week 20 to week 38.  And we had many pictures of our son via 3D4D that showed that this was simply not the case.  We even opted for a 3D4D video, (even though we had seen him 4D for high level assessments as requested by the OBGYN) not doing this - and even waving.  So, after that, I made sure I NEVER just accepted what those reports said, without seeing it proven to me first.
I think, for the most part - it is sometimes better not to tell the techs at first, see what they find first.  (An unbiased first scan.)  It is then important to tell them (either because you get a diagnosis or you have higher risks), so that they can really look for things that they would otherwise not look for.  (The more specific things that may be of a health concern - like heart defects or fluid in the brain ventricles - which often resolve in utero before birth, but should be monitored during pregnancy and after.)

It is something I forgot to mention, that if you have higher risks for Ds, you can aks your OBGYN to make a requisition for a 3D4D high level (Level II) ultrasound, to look for markers that may not otherwise be seen on a regular 2D ultrasound.  (This is really great, because you get to see the 4D, which otherwise you would have had to pay for!)  We got to continuously see our son (Hunter) on 4D and even get pictures to take home, since our OB wanted these 4D scans done for diagnostic reasons.  Sometimes there are rewards that you wouldn't normally think of!

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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