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NT Results - High Risk of Downs
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NT Results - High Risk of Downs

I'm 26 years old (27 in Feb) currently 16 weeks pregnant with my 2nd child and had my NT scan and bloods done at 13w+4 days with a result of 3.4mm and a high risk of 1:60 for downs. My Husband and I have decided to have an Amnio to put our minds at ease and to have the time to educate ourselves if the results are confirmed to be the worst case. (We will not be terminating what ever the outcome.)

Our Amnio is scheduled for Tuesday the 4th and I am pretty nervous about it! Just wondering if anyone has had similar NT results to mine and have turned out fine?

Rachel
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26 Comments Post a Comment
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1548468_tn?1319033315
Wow... I guess I'm alone on this one!
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719902_tn?1334168783
Sorry, hon, I haven't been thru this.  But I will say that, weekends are slow around here, LoL.  So maybe repoest Monday morning?  GOod luck!
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971074_tn?1362763366
I didn't have the test done myself. I'm sorry you are going through this. I would be nervous about the amnio too. I guess you should ask yourself if you would feel better about knowing for sure or would you rather skip the risky amnio. I have a feeling your baby is just fine and the NT scan was wrong. But either way...the child is a blessing. Best Wishes to you.
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1510239_tn?1364931556
I dnr even know why they make us go through the test of nt( the doctor) i mean is just a possibilities, it doesnt mean is positive for downs, i dnt even tjink u should go the amnio. You should also be getting a fetal growth ultrasound, where they check everything in details and then if they see any factors do the amnio, if any doubts... I hope the best for you i been through this and its very stressfull, i know... Kisses
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287246_tn?1318573663
Good for you in your way of think.....I too would want to educate myself on the best way to prepare so that my baby could have the best start possible.  I would also speak to my pediatrician before hand.

As for the NT results....this has never happened to me, but I know w/ my brother's first child, they had this happen.  It was a + result, but it was just borderline positive.  They redid the test and then it was -.  My nephew was born perfectly healthy and without Downs.

There is a couple of other people on here that have children w/ Downs.  One is martikadragon.  I can't remember the other one, but I know she gets on the 35 and Older Pregnancy Forum.

I am so sorry you are going through this and I wish you the very best!  Your baby is lucky to have you and your husband and will be loved no matter what.  That is just awesome!!  I wish more people felt this way....
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280369_tn?1316705641
I think your attitude is great. I always refuse tests like this, because no matter what, personally, I could never terminate a pregnancy. But if I knew something could be wrong, I would probably have further testing and want to educate myself like you said. I have never had an amnio and I know there is a rise of miscarriage, but I also know that test can tell you quite a bit. I wish you the best and hope your worries can be put aside and that you have a healthy baby! Please let us know how the test goes! (((hugs)))

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561393_tn?1320966415
Hello, sorry it took so long to read your post (I'm really good at noticing these post) b/c when I was pregnant with my daughter I got an NT result of 5.2. I to choose to go though with the amnio for the same reasons you are I would never end a pregnancy because of problems. Getting the amnio ***** (I just want to let you know that) If you don't like needles you will not like this.... But by the time you walk out of the hospital you really don't feel it anymore. After a few weeks of waiting I got my results and my baby was fine no chromosome problems what so ever and I found out she was a girl (I thought I was having a boy b/c I have two older boys) so that day was the best day of my life. But I still had doubts that some how they messed up and I still continued to worry b/c I chose not to do any more testing and do an echo etc. My daughter was born at 35 wks and my doctor was positive that this story would have a bad outcome. But nope she was healthy just had a little bit of low blood sugar and within 2wks she was home. All we could find was a little third nipple which we have been told later on in life she won't even notice it. I hope this story made you feel better. If you would like to ask me anything I am here to help.
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1548468_tn?1319033315
Oh WOW! There ARE other people here! *giggles* Thanks so much for the replys guys...

You know... I didn't even know that the NT scan OR the Amnio were optional? I'm totally new to this and the doctor just automatically booked me in and I just went along thinking that it was all standard procedure. I can't believe he didn't even suggest that I didn't have to do either.

If I had of known that the NT scan was optional I would never had bothered... but now that I have and got these results - I feel like I need to know with the Amnio because I feel like I'm doing more harm than good for the baby to be stressing like this through the rest of the pregnancy. What a drama!

@ bhenneker - Thanks so much for sharing your experience... actually I think I did read your story on another forum. (When I was getting no replys to this I anxiously went searching for other forums for answers - which has been reassuring.)

Thanks again everyone =) I will give an update with how I go with the Amnio =)

Rachel
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1330108_tn?1333680904
I didn't do the NT or any of the testing since there are so many more false positives than true positives but then at the 20 week ultrasound they found echo genic bowel and said it could kill the baby and it wasn't my OB who did the scan but another ob and pressured us into the amnio. I would never do an amnio ever again. I rather not know then risk losing my baby over it. I wouldn't terminate for any reason so no need for an amnio. That is just my personal opinion though and I understand that everyone is indeed different and there are different opinions. I am sure you know the risks vs benefits and you just have to go with which outweighs the other. Good luck!
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1548468_tn?1319033315
Just wanted to share that I've just come back form having the Amnio and it all went very smoothly! It didn't even hurt one bit!

Now I just have to rest up and take it easy and hope that the results come back all clear on Friday. =)

I will update again as soon as I find out.
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1330108_tn?1333680904
Good luck!!
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1548468_tn?1319033315
Thank you! =D
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1294482_tn?1354492888
Good luck to you and only you can make the right decision for you and your family. I am another one who refuses all tests because I don't want to deal with the stress. I have heard so many stories about girls getting a scare and then nothing being wrong. Like you, I wouldn't terminate the pregnancy either way. Remember you do have an option, some Dr's don't really like to tell you that. I was pushed for weeks to have it done by my last Dr and had to keep saying NO. Good luck to you!!!
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1548468_tn?1319033315
UPDATE: We got the FISH results in today... it has been confirmed that we are in fact having a baby boy with Downs =(

It's gonna take a while to come to terms with it.. but we are staying positive and can now educate ourselves on how to deal it.
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1330108_tn?1333680904
I'm so sorry :( at least your child can still lead a happy and healthy fulfilled life with downs. And too at least you will be prepared. Wishing you the best!
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Avatar_f_tn
My mom had a confirmation that my little brother was going to born with downs, but hes healthy no problems whatso ever. There is always a glimmer of hope....

If that is the case that your son will have downs, this little boy is very lucky to have parents like you. Im sure its all a shock now, its going to take some time to get used to it. I know too, I know Id love any child God gave me, but your fear the worlds reaction towards him, you fear how your parents, friends.... will react to him. Most importantly He will be full of love and life :o) He'll probably be the happiest from all your kids, bc thats how downs kiddos are! That is a great relief. Its hard, and take it one day at a time, you'll love him when he's born and in a few yrs you wouldnt be able to imagine life without him!
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1294482_tn?1354492888
I am so sorry to hear the news but so glad that he is going to have parents like you that want to keep him and love him just the same. I have a cousin with downs and I am a special ed teacher and absolutely love all my students who have downs. They are really great kids!
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Avatar_f_tn
congrats on your baby boy!! people will say they are sorry, but the truth is you are having a beautiful baby boy that deserves congrats like any child does.  

having been through this i can relate.  there will be lots of emotions you will experience, and dont ever feel guilty about them.  you need to go through them to accept and to love and to feel joyous about his delivery.  you will feel sadness, you will feel guilt, you will feel grief, and then you will accept and love with all you have.  

the biggest thing right now is probably the echocardiogram they will do to check his heart.  i have 3 kids.  my last baby is my dd with ds.  i think the fact you have one child already it will be easier, my experience was not being a first time mom.  i dont know about where you live but check with your local down syndrome groups.  the info and compassion and just having someone you can relate to is a must.  

the great thing for you is now you can get through your pg and on the day he is born feel joy and celebrate his birth.  people with down syndrome can do things like anyone else.  when i first found out i mourned the child that i wouldnt have. once i educated myself and learned how independant she can be and all of the things she will accomplish i felt like my worries were a waste of time.  you will do great, you will love this child in a more special way and im very excited for you.  im not on here much but i do come to check out moms going through this very thing.  msg me if you want to talk, vent, share excitement-anything!  sometimes just having that person say it will be ok is something to get you through your emotional roller coaster.

again congrats on your baby boy!!
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Avatar_f_tn
bump for when you come back :)
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1227139_tn?1367231533
Hello Rachel (Mummyrae),

I was told about your post and I wanted to quickly jump in here to offer support and friendship along with lots of information to and for you!  First off, I want to say congratulations on your pregnancy.  While many people might not understand why I would say congratulations, I will never say sorry to you for having a baby with Ds.  My first born son (who is now 1 1/2) was prenatally diagnosed with Ds, via Amnio and we like you were completely shocked and I was sad (at first).  We had no indication through all the other testing, such as NT scans and ultrasounds that my odds were anything but normal.  His NT was 2.3mm which was considered normal and with in range for our area.  The first set of blood tests and ultrasounds all came back clear.  My odds at the age of 35 were 1:385 but I wanted to have an Amnio all the same because of my age.  SO when we learned the results, like you with your first set of results and probably everyone else, we were completely shocked.  But one thing I did was start researching away, which was something that having an Amnio afforded us and gave us time to do.  And proper research was the blessing in disguise.  I have since my sons birth kept a detailed blog, written 4 books, started a parent/child play group and several support groups.  I wanted to make sure that people knew what I never knew or only knew by stereotype was incorrect.  (This is why I was asked to be a Parent Guide by our Genetics Department at our local hospital)  Because there there is so much help out there, such as Early intervention (therapies designed to help kids achieve proper development), kids with Ds have such a great chance and help to learn and get the therapies which put them in line with their peers.  I have so say, my son is very typical and I think because I have never doubted his abilities, he is thriving.  I wish I could get the world to see what we have been so lucky to see.  A gift we had no idea we had ever wanted.  
Anyway, I am rambling on here, but I wanted you to know you have much support here and I wanted to say - you have the right idea.  BE positive, do your research and never forget that loving your child is what shapes him to be the best that he can be.  I know that because we did the same, my son is as typical as they come because of it.  Smart, loving and so much fun!  And even if he wasn't typical - I know that we wouldn't love him any less.  It's all about what's in your heart and in your eyes.  Don't be sad.  I know first hand that it's hard to say because we all (for parents of children who have Down syndrome) by nature grieve the loss of the "typical" child, but something will surprise you when you get there.  I promise.  I have sent you a message directly also with my information.  I hope that this will help or at least be the first steps in the right direction for you with your expected bundle of joy.

I also extend myself to anyone who has questions regarding Down syndrome.  Often the answers would surprise you and it isn't uncommon to know that the stereotypes out there about Ds are usually and totally incorrect - even the ones provided by the people that you would think should know best... the Doctors.  Ie: saying Downs as opposed to Down syndrome or Ds.  Doctors still do this to this day.
If interested, please visit my profile and see my blog about our Journey.  We'd love to see you there!  :)
MedHelp also has three wonderful Forums for Down syndrome, and Children with Special Needs if anyone is interested in visiting.  

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;
MTHFR Group Forum Founder/Moderator;
Pregnancy: June 2011 Community Leader
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1548468_tn?1319033315
Woah... Thanks for all the support guys.. some of you have sent me pm's and I intend to read them and respond to them as soon as I can... just right now my family and I are in the middle of a flood crisis (we live in QLD Australia) I'm sure you've probably heard about it.

Hasn't been a very good start to the year for us!

Thanks, Rach xx  
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1548468_tn?1319033315
Some more sad news...

We just lost our baby boy due to severe congenital heart defect - he was born sleeping on the 26-01-2011 (Australia day.) Rest in Peace Cayden Ray xoxoxox

Also if anyone can tell me how to stop the pregnancy email updates from medhelp I would appreciate it - I'm having trouble trying to figure out how to cancel it and it's a painful reminder each time I receive one.

Many Thanks for all the support.

Rachel
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938326_tn?1300882404
I am so incredibly sorry for your loss....
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Avatar_f_tn
IM SO INCREDIBLY SORRY for your loss :(((((( I cant imagine how it is, Ive never expierianced the death of a child. I hope you will one day heal. God Bless you guys!
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1510239_tn?1364931556
oh goodness im sorry about your loss...i hope god can you give the peace and serenity that you need very soon...
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1294482_tn?1354492888
Words cannot express how sad I am for you. I hope that you will someday be able to heal from such an aweful experience. I am sorry I don't know how to get rid of the pregnancy updates. Hopefully someone on here can help you with that soon.
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