Trisomy 13 or 18?

AjaH4 · February 2016

Not sure if this has been discussed yet. I'm not looking for Dr or Google advice. Just wondering if anyone has gotten these positives yet. I did today, and would love to hear about others, if possible. Thanks in advance.

bsckgb7 · February 2016

Do you mean true positive from a diagnostic test or a higher possibility from like the NT scan?

ThisisNumber3 · February 2016

Yes I think it depends if you got a positive on the NT screening (in which case they should have gone over the 1 in X chance numbers) or if it was the the genetic testing

amccul20 · February 2016

I'm sorry to hear about your test results, but yes, answer the questions above and hopefully someone can give you more guidence

bjt12 · February 2016

I agree with the ladies above - did you get this from a NT scan and you percentile chance was a high number or did you have the maternal21 test where they actually test the baby DNA and it's a positive? I would definitely start with talking with your genetics counselor and OB. We had the maternal21 testing done because of my age and the genetics counselor said she would be there to answer questions/help along the way of results came back positive.

AjaH4 · February 2016

At first, it was allegedly seen in this most recent ultrasound- the one for old ladies, (I'm almost 37,) and then he pricked my finger and called yesterday saying my blood work confirmed what he saw in the ultrasound. I'm gonna do the amnio next week, but am freaked out about that also. Ugh. I'm wondering if any of these tests can be false positives. I've Google alot, but nothing extremely helpful...

shalsroy · February 2016

Was your finger prick test the Non Invasive Pregnancy Test? Mine was done at 9 weeks and involved two 10 ml vials of blood. That blood test looks at the baby's DNA and is definitive.

AjaH4 · February 2016

Crap. IDK. All these funky tests are new to me. I just had my 4th baby 11 mos ago and didn't do any of these tests. I had an ultrasound at 9 weeks, they said everything looked good. Then my Dr sent me for the 11-14 week ultrasound for high risk pregnancy, and that Dr is the one that is telling me this news, so then he pricked my finger and blotted it in 5 spots on a paper and called yesterday with the results. I'm so confused by this. Just curious if anyone else has gone through any of these weird results, and such. This is my 5th baby and I've never even heard of this stuff

gobluexc · February 2016

If it was the paper blots I am pretty sure it's just the combined first trimester screening. Did you doctor give you the odds? These tests aren't positive or negative, but there's a risk threshold. For example, you could have tested that you have a 1/80 change of trisomy 21 or a 1/4 change of trisomy 21 and both of these are considered "positive". If you are concerned about miscarriage risk with the amnio, they could do a different blood test (NIPT) that is more accurate.

deneekoncz · February 2016

Back in august I went for my 12 week screening and they had seen signs of trisomy 18 on the ultrasound. The next day I had to have a cvs test done which was pretty painful I won't lie. It took about 7 days for the results to come back as positive for trisomy 18.We made the personal decision to not continue with the pregnancy because there were just too many things that were wrong. I'm so sorry your going through this but if you need someone to talk to don't hesitate!

jmw386 · February 2016

I am so sorry you are going through this. I don't have any experience with trisomy 13 or 18 and had to look them up to be sure what they were. Unless you had the DNA screening, I would guess that the testing you had done still has a percentage of false positives. I hope the amnio gives you some more answers. Thinking of you and hope you get some good news soon!

AjaH4 · February 2016

OK yes I def want to talk about this!

juleswalsh · February 2016

@AjaH4 Did your doctor go over whether or not there is any other 100% way to test this other than the amnio? I had an amnio with my last pregnancy and I really hated it. It didn't really hurt , but it did make me feel really sick. I wouldn't call it fun that's for sure! Just want to make sure you know all your options because I really didn't when I went into that situation.

bsckgb7 · February 2016

juleswalsh - Your only choice for diagnostic screening are a CVS or an amnio.

smilormarie · February 2016

Can you ask for the MaterniT21 test or one of the alternatives? Harmony, Verifii, Panorama? And AMA starts at 35 for most practices so I'm surprised they didn't do these for your last pregnancy. Good luck!

cbpalagi · February 2016

I just found out last week that there over an 80% chance that the baby has a chromosomal disorder. I'm getting a CVS test done on Wednesday. They talked about doing the MaterniT21 blood test with me, but they said it's not as accurate as CVS or amnio, and if I got a positive blood test they would do CVS or amnio as the next step to actually diagnose the baby. So we decided just to go for the CVS right away because the anxiety of not knowing what's going on is killing us. Needless to say we currently feel helpless, and we are hoping for the best. No matter the outcome, we have decided we will definitely keep the baby, we're just doing testing because we want to be prepared and knowledgeable.

juleswalsh · February 2016

Anyone reading this board ...if you do get a confirmed diagnoses of trisomy 13...please email me at juliewalsh1987@gmail.com
I have an invaluable resource for you. When my son was thought to have this condition I did a ton of research , and have a wonderful contact for you.

HeyStVincent · February 2016

@cbpalagi - there are a lot of things that can affect the first trimester screening results and give a false positive. I know odds looks high at 80%, but I have seen my fair share of women screen like this for the first tri screen or for the quad screen and then CVS or amnio shows a chromosomally normal baby.

I work as a nurse with prenatal patients, and I almost hate to have people do these screens because they too frequently give false positives. I'm not anti-screening, but I always just say a little prayer after patients do these tests for NO FALSE POSITIVES. It really causes the woman and her partner so much emotional stress, and unecessarily so. It's an awful, helpless feeling and I'm sorry that you're going through it. I really think the cell free DNA tests (like Mat21, panorama, etc.) should become the new norm for screening since they give false positives less frequently.

Hoping you and @AjaH4 get the information you need this week. Hugs.

AjaH4 · February 2016

Hey ladies, sorry I have been absent. Met with my ob today to confirm what the specialist told me. We are going through with the amnio on Thursday. My ob has prepared me for termination and scheduled no further visits. My heart is devastated. Especially when I just saw this boy moving on the ultrasound last week and heard is heart beat today,as I'm holding my 11 month old baby. I'm freaking lost.

kiwico14 · February 2016

@AjaH4 I'm so, so sorry to hear this. Sending thoughts and prayers for you and your family.

Abcd7890 · February 2016

Thoughts and prayers for you and your family.

Bookhousegirl · February 2016

@AjaH4 I am so sorry, my thoughts are with you and your family.

texasmama2014 · February 2016

@AjaH4 Thoughts and prayers!

deneekoncz · February 2016

@AjaH4 I am so sorry I know exactly what you are going through. It is so hard , just remember that there is nothing that you could have done to prevent this from happening.

cbpalagi · February 2016

@AjaH4 I'm so sorry to hear this. My thoughts and prayers are with you. I hope your amnio goes well...I just had my CVS procedure done today.

Ceventa · February 2016

So sorry to hear this, thoughts and prayers to you and your family

bjt12 · February 2016

I'm sorry to hear this update, please let us know how the amino goes! Thinking about you!!

HeyStVincent · February 2016

@AjaH4 - I'm so sorry to hear this. Take care of yourself until you get your answer from the amnio. I would advise that you follow-up with a counsellor to talk about your feelings (at least one session) if you do wind up terminating the pregnancy. So sorry that you're going through this - it's so hard.

Fremdschamen · February 2016

I'm so sorry, @AjaH4. What an incredibly difficult position to be in. Thinking of you and your whole family.

bananers · February 2016

I'm so sorry. Keeping you in my thoughts. I am still crossing everything for you that it was a false positive. Hugs.

DDRRT1982 · February 2016

I am thinking of you. This has got to be so tough. Sending lots of prayers.

AjaH4 · February 2016

Did the amnioscintes today, which was not as scary as I had anticipated. Just gotta wait 7-10 days for the results. The specialist is kind of a prick and I'm just hoping he is wrong. Thank u gals, for all of the well wishes and prayers. Hoping to make it to Aug with u ladies. Xoxo

tinkerbell11210 · February 2016

Praying for you and your family.

bananers · February 2016

Glad it's over. Hugs.

smilormarie · February 2016

Glad the procedure went well. Ditto to what everyone else is saying. A chromosomal abnormality is not anything that can be prevented. It's truly a mixup of nature if it happens. But so devastating as by this point you've been so attached to the baby, understandably so. I really do hope it is a good result and the worries were for nothing and you get your miracle baby in Aug.

as for the prick, I'd report him.

Hugs.

AjaH4 · February 2016

Got the results back this morning, and there are zero chromosome problems!!!! I can't even believe this Dr!!!!!! If it were up to him, I would've terminated by now. I seriously just can't believe what he's put us through, just to find out our baby doesn't have what he convinced me of!!!! We are beyond ecstatic!!!!! Wooooooohooooo, August!!!!

ThisisNumber3 · February 2016

@AjaH4 that is wonderful news! I know it's scary but it sounds like the dr followed protocol

kcolly32 · February 2016

@AjaH4Im so happy for you!! Glad everything is ok and you have a healthy baby

kiwico14 · February 2016

What a relief! I hope you can heal from the fear and pain of the past weeks and really enjoy your pregnancy.

pelorunningmama · February 2016

Congratulations!! That is such wonderful news to read this morning!!

bananers · February 2016

OMG!!! That's the best news ever! I have been thinking of you lately and this made my day to read this!

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