Trisomy 18 risk 1:30

abrazz · January 2014

I swear I saw a post on here not too long ago about this but I cannot find it. My quad screen came back and the risk for Trisomy 18 is 1/30. I called the doctor's office (our labs are posted online so they hadn't called me yet) and they said maybe my dates are off. I have the anatomy scan on Monday so they said they will call me the next day and go from there. I'm just nervous and upset because it looks like Trisomy 18 babies rarely make it to full-term and then living past the first year is even more rare. DH doesn't want to talk about it and I haven't mentioned it to anyone else so thanks for reading this. Oh and our doctor doesn't offer an NT scan so we didn't have a 12 week ultrasound. He does, however, take a "peek" with his older ultrasound but doesn't take measurements.

reils500 · January 2014

So sorry you are going through this.
Fingers crossed for good news next week. In the meantime, stay away from Google!

shanaynerz · January 2014

I have no advice, but just want to say I'm sorry you're going through this. Hopefully you'll get some good answers at your a/s. It's just so hard having to wait so long I know. T&P's that baby is just fine.

Wrights22 · January 2014

Hey there- with my NT scan/blood work...my Trisomy 18 risk came back 1 in 69. I took the Harmony test for results and am currently waiting for the outcome. Keep in mind the ultrasound has a ton to do with your risk. You may find that after your ultrasound your risk changes dramatically. But if not- they will recommend further testing such as amnio or Harmony or Materniti21. (You'll be in the same boat as me... Anxiously waiting for further info). You're correct that Trisomy 18 babies usually do not live very long if they survive the pregnancy. (I should know... I think I've googled everything about it). But try not to stress at this point until you at least have the ultrasound. Easier said than done I know.

abrazz · January 2014

reils500 said:

So sorry you are going through this. Fingers crossed for good news next week. In the meantime, stay away from Google!

Too late lol! I also went through DH's OB text books and have officially freaked myself out.

Ylvelill · January 2014

Sorry to hear about your lab results, sending good thoughts your way

rattlecanqueen · January 2014

I have no experience, but you and baby are in my prayers.

cakebatter27 · January 2014

I'm sorry for this news. I would pursue other testing immediately.

A family I nannied for lost their daughter to trisomy 18. Please pm me if you would like their story. I'd rather not post it publicly.

abrazz · January 2014

Wrights22 I hope you don't have to wait too long for the results and that they come back telling you everything is okay

Thank you all for the T&Ps

lizzybeth13 · January 2014

Thoughts and prayers to you, your husband, and your little one.

BBColt78 · January 2014

Ugh, I'm so sorry. When your doctor mentioned dates, it must be because your HCG level (beta) was rather right for how far along you are. HCG levels start to decline after 10 or so weeks. A high HCG level is just one of the things they look at to change your odds.

Without your additional testing, your risk right now is 3% chance. That's still low, though I'm sure it doesn't feel like it.

Keep us posted. I'm sure you'll be doing one of the blood tests that the PPs mentioned. Lots of thoughts to you.

abrazz · January 2014

cakebatter27 said:

I'm sorry for this news. I would pursue other testing immediately. A family I nannied for lost their daughter to trisomy 18. Please pm me if you would like their story. I'd rather not post it publicly.

I will want to hear there story for sure if it turns out the baby does have a genetic disorder. I'll know more Tuesday so hopefully you don't mind if I end up PMing you next week. I'm hopeful everything will be okay

SuperTinkerham · January 2014

Hugs hugs hugs

AmericanInOz · January 2014

I hope you get answers soon

Salsera29 · January 2014

I don't know how similar they are, but I have a colleague with a son with Trisomy 16q+. He's had difficulties of course but right now he is a happy, thriving 4 year old.

But I hope you get good news!

JMCB09 · January 2014

I'm sorry you're going through this.

SuperKim13 · January 2014

(((HUGS))) I hope you get good news, and soon!

alohababy14 · January 2014

My midwife told me today that my risk for Down Syndrome came back 1/18 (5%). I am going on Friday for the ultrasound. It feels like an eternity to wait even if it is a couple of days. I know they are off on my dates because I don't ovulate regularly (PCOS), so I am praying that is the reason for the positive test. I'll be thinking of you! Let us know how it goes.

TurtleMonsters · January 2014

I would focus on it just being a risk level. T&P the time passes quickly until you find out more.

LilredmommaC · January 2014

Thinking of you!

stella_blu · January 2014

Big hugs while you wait this out. I know of a sweet 2.5 year old with trisomy 18 who is doing amazingly. She of course had many challenges but is now walking and talking more and more everyday.

glitterclaws · January 2014

Thoughts and prayers!

January Bride · January 2014

Sending you lots of thoughts and vibes.

DelilahSun · January 2014

@a_brasuell and @wrights22 : If I can offer any advice or support, please let me know. I just had my amniocentesis last week (16w2d) and I had one with my last baby too. It is the most definitive analysis you can have done and both procedures I had have been positive experiences. Even a detailed anatomical ultrasound will not always give an indication as to chromosomal abnormality. My son is a Trisomy 2 Mosaic and his anatomy scan, and all his follow-up u/s were completely 'normal'. My good friend also had a 'normal' anatomy scan with her Downs son. With this baby (a girl) we have had a positive screen for Downs (as expected with my age) and we are currently awaiting the results. Wishing you all the best on your journeys - I understand completely how you feel.

pfeilele · January 2014

I understand the pain of waiting

I'll be thinking of you and hoping and praying good news comes your way.

cuntasaurusrex · January 2014

I'm so sorry that you had to find out that way and also now wait for further results- is it too late for diagnostic bloodwork?

jackieo1309 · January 2014

Hope you get some good news soon. Thinking of you!

singingirl96 · January 2014

When it comes down to it... it is just a risk factor, not a diagnostic test. You should take a diagnostic test just to put your mind at ease. Maternit21 is just as reliable as an amnio and it is not an invasive test. Just bloodwork. I would highly suggest you have it done.

I was given a1:2 chance of my son having Downs Syndrome because of the type of heart defect he was diagnosed with. Maternit21 was negative and indeed he was not born with DS.

AKbadwolf · January 2014

My thoughts are with you.

alygoo615 · January 2014

I'm in a similar boat. NT scan last Friday showed a very high amount of fluid (9mm). I go in tomorrow morning for another ultrasound and to discuss diagnostic tests. Gaining hope as the week went on, but the doctor was very real that he didn't see much to be hopeful about. The waiting game is the worst. I'll keep you in my thoughts and prayers as well as the others in the same boat who have commented.

@cakebatter27 If you wouldn't mind sharing the story with me via PM, I'd appreciate it.

francined01 · January 2014

agree with other posts- get Panorama/Materni21/Harmony or one of those blood tests and get a better and more accurate risk factor..

you will get the results back in 7-10 days.

and if your ob doesn't know about these tests then I would question how up to date your practice is!

knitsandgiggles · January 2014

Keeping you in my thoughts!

abrazz · January 2014

Thank you all so much for the support. If the ultrasound shows anything I am sure that my doctor will do diagnostic testing so we know what to expect. I hope everyone who is waiting on results gets good news. Like others said, waiting is so hard and I just want everything to be okay and to be able to start preparing if things are not.

BoraBoraBaby · January 2014

I am so sorry you're going through this. I can't imagine the fear, frustration and having to wait. I'll be thinking of you and baby. Please keep us posted.

Trisomy 18 risk 1:30

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