My baby has a chromosonal defect? She's HERE & HEALTHY! Post 355!!!

[raysnkaysmom]

So...I went for that test today, they do between the 11th and 12th week, where they check the thickness of the back of the babies neck through ultrasound along with bloodwork. I just had this done with Sage last year, and everything looked 'perfect'.. and he is
Today, my news wasn't as good.. and I'm scared, devastated, concerned.. mostly scared. The thickness of the neck should be at 20cm... this baby's is almost doubled... she is almost positive there is a chromosonal defect. More than likely, down syndrome, but if its a girl, could be Turner Syndrome.

I wont get the bloodwork back til early next week, but she said she is pretty sure it will come back abnormal with the obviousness of the ultrasound.. Then, I have to make a decision within the next week on amniocentesis, or CVS (never heard of the latter).. so I'm off to look up all the overwhelming info I got today. I've only had this information for about 2 hrs... and it's moments of strength, hysterics, guilt, sadness, and anything else you could imagine already.. My poor DD8 was in the room with us....

Any advice....or just thoughts is much appreciated....

 

[MinnieFan4ever]

You will be in my prayers.

 

[DMickey28]

Tracy - I will keep your family and the baby in my thoughts and pray for good test outcomes.

 

[perdidobay]

I am sure there are alot of women on these boards who have been in your shoes and will give you great advice.
Don't overwhelm yourself with info before you take time to just absorb this news. I hope you can involve your DD so she will not be worring too much.

 

[mickeyboat]

Denae

 

[DawnCt1]

No advice, just

 

[AlexTina]

Keep your chin up. Depending on the position of the baby it is possible that they got a bad reading. Check out babycenter's boards, there are probably a lot more people there that have been in your position and can offer words of wisdom. Good luck!!

Tina

 

[JB111107]

just relax and take a deep breath. Remember God won't give you anything you can't handle. I know how difficult it can be not to stress yourself out at that stage wondering what is going on with your baby, especially when you're at a stage where if something were to happen, your baby could not survive being born. I really am not even to a point yet where I'm breathing a sigh of relief at that thought, as even at my stage now (28 weeks) things are still very precarious. I have high blood pressure and am borderline diabetic BEFORE pregnancy, so I've been on pins and needles this whole time with worry.

Hopefully you've got yourself a loving and supportive DH that can help you try to keep your mind focused on anything else, at least til you get more concrete test results back.

CVS is just another testing that can be done. Chronic Villus Sampling I think is what it is called, though to be honest I'm not entirely sure what the procedure entails. (I'd google it but that is blocked at my office...)

Just to give you some point of optimism, my best friend had the same detections during her last pregnancy, and had spent the remainder of her pregnancy prepared to have a child born with Down's or worse. Today that little girl is a totally normal, healthy (albeit quite the fireball) 3 yr old. No defect, nothing at all, but she did not opt to have the amnio or any further testing after that, as she didn't feel the risk was worth it at that stage of the pregnancy.

Hang in there, and try to keep your head free of all the potential outcomes. You can put both yourself and your baby in danger if you stress out and make yourself sick. Remember you've got people here, and more, I'm sure, keeping you in our prayers for a positive outcome to further testing.

 

[java]

Take a deep breath. I know how scary those words are. My numbers came back high for Trisomy 18. I went through 2 months of panic and worry before finally a tech said"It all looks good"
CVS is a small cell sample that they collect. I have several friends that have opted for that as it is a DNA kind of test where you get more clear answers early on. (at least that is how I understood it)
And don't panic at this point. easier said than done I know. You can only go on what you know now. And now it is just uncertainty. There is a chance that there might be a problem. A chance. Remeber that it's just a chance not a definate at this point.

 

[bsnyder]

Tracy, my neice has Turner's Syndrome, so it's something I'm very familiar with. Let me know if you have questions, or you can PM me, if you prefer to keep that private.

I know you are scared and upset - I think the only thing you can do is take it one day at a time, until you know what you are dealing with. My thoughts and prayers are with you and your family.

 

[Kim&Chris]

You are in my prayers.

Just an fyi...my sister received a similar reading and our Kelly is perfectly healthy. I will pray you have the same outcome.

 

[momrek06]

Ahhh, Tracy, you are in all my prayers.

 

[Laura]

Try to stay calm. You don't know what you're dealing with yet, if anything.

Chorionic villus sampling is when they remove a little bit of the placenta. Some info from webmd: http://www.webmd.com/baby/chorionic-villus-sampling-cvs

 

[C.Ann]

Prayers and hugs to you and your family..

 

[breezy1077]

My prayers are with you. Don't panic until you know for sure.

 

[Scutapipig]

The emotions you are feeling are perfectly normal. I remember having similar feelings when we were told after our ultrasound that our child may have a chromosonal defect. We had to let that absorb over the next few days and since we refused testing, we waited until our son was born to find out he was diagnosed with Down syndrome.

I just wanted to share that if...and I stress if...your testing comes back positive, it will truly be ok. There are many people who will support you, love you, love your child, and be there for you when you need them.

Please know that if you need information or direction on where to obtain information, I have a number of websites and organizations that I can send your way. Please don't hesitate to PM me if you have specific questions or if I can walk you through this in any way.

This is a picture of my little guy...who is really not so little any more.

 

[raysnkaysmom]

Thank you all... My friends daughter (just born in July) was a 1 in 25 chance of developing Trisomy 18.,....but she is perfectly healthy
My dr told me Trisomy 18 was unlikely, but she was 'pretty sure' that my baby had a genetic defect just by the extensive thickness of the back of the neck

I'm looking at my CVS and Amnio options... I really don't want either.. but if I do CVS, I'd have to do it within the week... I don't think I will. If I change my mind and feel I 'need' to know whats exactly wrong, I'll go with the amnio at 16 weeks.. I've just always thought those tests were bad because they increase risk, and can't solve a defect anyways... Now..I'm confused and scared about what I 'should' do....

As I read about Turners..if I was able to carry the baby to term, Turners seems totally manageable.. but my drs concern was carrying to term. I'm very unfamiliar with carrying for down syndrome. Doesn't mean I wouldn't do it.. but I'm in totally unfamiliar territory being blessed with 3 healthy children....

 

[bunny]

I don't have any advice, but I am sending you a hug. Neither diagnosis is the end of the world. Look at Sarah Palin. And Mary Lou Retin has Turner Syndrome (if you remember her).

 

[NMAmy]

No advice but you're in my thoughts and I hope everything turns out well.

 

[goofy!]

So...I went for that test today, they do between the 11th and 12th week, where they check the thickness of the back of the babies neck through ultrasound along with bloodwork. I just had this done with Sage last year, and everything looked 'perfect'.. and he is
Today, my news wasn't as good.. and I'm scared, devastated, concerned.. mostly scared. The thickness of the neck should be at 20cm... this baby's is almost doubled... she is almost positive there is a chromosonal defect. More than likely, down syndrome, but if its a girl, could be Turner Syndrome.

I wont get the bloodwork back til early next week, but she said she is pretty sure it will come back abnormal with the obviousness of the ultrasound.. Then, I have to make a decision within the next week on amniocentesis, or CVS (never heard of the latter).. so I'm off to look up all the overwhelming info I got today. I've only had this information for about 2 hrs... and it's moments of strength, hysterics, guilt, sadness, and anything else you could imagine already.. My poor DD8 was in the room with us....

Any advice....or just thoughts is much appreciated....

I am the parent of a 21 year old daughter with Down syndrome.

I also have had both amnio and CVS on my next two children. I much preferred the CVS because it was done earlier and I got the results much faster.

My advice to you is to contact your local Down syndrome organization immediately. I chaired our local parent visitation group and I know that everybody is trained not to judge, just to give information. So, don't feel like anybody is going to make you feel guilty if you decide to terminate the pregnancy.

They will give you the most up-to-date information on what it is like to parent a child with a chromosomal abnormality, both the good and the bad.

Lack of knowledge is the scariest part. Get the info now, so that if (and that is a big if) your tests come back positive, you will be able to make an informed decision of how you want to proceed.

Your OB/GYN should be able to give you the number of the local Down syndrome group. If they can't, ask a nurse in the labor and delivery department.

Or PM me and I can find out for you.

Or PM me if you have ANY questions regarding Down syndrome.