Possible chromosomal abnormality - Page 2 - Mothering Forums

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#31 of 43 Old 05-26-2011, 01:10 PM - Thread Starter
 
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Got a call from my doctor today (well, doctor-in-training) to follow up about the results and ask if I had any questions, and to discuss what to do next, which I thought was really sweet. She asked if I was clear on what I was told, and I said not really, I was in a hurry to pick up my oldest and basically only heard "positive", "1:100 chance of Trisomy 18" and "higher than usual after this test".

As it turns out, what I was told yesterday wasn't the whole story. The test showed that my risk for a baby with Trisomy 21 (Down Syndrome) is 1 in 100. This is elevated. Unless you take into account that just my age alone would put me at 1:60! So apparently my risk for a Down Syndrome baby is lower than average for my age. And the odds for Trisomy 18 are, as she said "buried" in those results. In other words, they have no idea what the risk of T18 is. She was upset because she thought the test would give much more defined numbers and clear cut information. Like I said, she's in training and I think this is her first brush with elevated risk levels, because she was endearingly clueless about this particular (lousy) screening test. 

 

She also told me that they (doc, overseeing doc, and several secretaries) have been trying to get OHIP to start my coverage earlier, so I could get the level 2 ultrasound done at the university hospital. How sweet are they? They didn't get anywhere, but it is so touching that they even thought to try that. I have to bring them some papers tomorrow for them to copy, and then they are going to see what else they can do for me. If I have to wait another six weeks for any kinds of tests, it certainly won't be for lack of trying on my doctors office's part. Aren't they just the best? It makes me teary-eyed just to think about it.

 

Oh, and I called the local community health center, but they only do basic care (which I am already receiving for free from my doc) and they do not provide level 2 ultrasounds. That was a bit disappointing. The lady on the phone said:"We do not have that kind of funding." which I thought was very sad.  

 

 

 

 

ETA: (like this isn't long enough already!) I saw my belly move while Matty was kicking! First time that I actually saw it move this pregnancy, and I am positive that I have never seen it this early before. It made me feel a bit more optimistic. 

 
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#32 of 43 Old 05-26-2011, 03:02 PM
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I'm so sorry to hear that. I know that our CHC has a fund for these types of situations, but not all of them do.

 

It sounds like you have a great medical team on your side, and hooray for kicking!

 

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Oh, and I called the local community health center, but they only do basic care (which I am already receiving for free from my doc) and they do not provide level 2 ultrasounds. That was a bit disappointing. The lady on the phone said:"We do not have that kind of funding." which I thought was very sad.  


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#33 of 43 Old 05-26-2011, 03:24 PM
 
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Your baby has 99:100 chances he or she does not have Trisomy 18! Would it be possible (cheaper) to skip the ultrasound and Genetic Counselor right now and ask for Amnio? Then see the Genetic Counselor when you get those results back, depending on what they are?

 

I will keep your family in my prayers.


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#34 of 43 Old 05-27-2011, 10:09 AM
 
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DDCC!

 

When I had my 20 week scan with my daughter, they found several markers for T21 and Cystic Fibrosis (f you search in the Oct '09 DDC, I made a thread in there), and when I had a scan at 28 weeks, they had all disappeared. I have a healthy, normal, amazing 19 month old now *hug*

 

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#35 of 43 Old 05-29-2011, 05:26 AM
 
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I don't know if this would be appropriate for your situation, but I thought I'd share that a friend of mine recently had a CP cyst show up on an ultrasound and was offered the option of a fetal echocardiogram as an alternative to an amnio. The echo gave a detailed look at the heart, and because about 95% of babies with T18 (and lots with T21 too) have some degree of heart defect, when hers didn't they were able to revise her risk status to very,very low. Maybe something to talk with your care provider about and to check whether it would be in any way easier to get covered. 

 

You and you baby are in my thoughts. 

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#36 of 43 Old 05-31-2011, 01:06 PM
 
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No advice, just checking in to say I'm thinking of you and praying for you.


Loving wife to a wonderful and Godly man, hug.gif  and SAHM to two beautiful boys, DS1, natural hospital birth (2/2010) and DS2, beautiful homebirth (10/2011) cd.gifnursex2.gif

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#37 of 43 Old 06-01-2011, 04:42 AM - Thread Starter
 
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Thank you, that means so much to me!!


~Iris~ Catholic mama to DD1 11/15/05 * DD2 04/28/08 * brokenheart.gif06/23/2010 * and our little rainbow DS 10/07/11 love.gif
 

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#38 of 43 Old 06-01-2011, 05:16 AM
 
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#39 of 43 Old 06-01-2011, 11:08 AM
 
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I have isolated mild ventriculomegaly. You aren't alone. Is it just me or these diagnosis becoming way more common? Hang in there. 

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#40 of 43 Old 06-01-2011, 12:57 PM
 
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Sending healthy vibes to your sweet babe. I'm so sorry you're stuck in limbo with no real answers. I'm rather shocked to read that amnios are still something you have to fund yourself when preliminary results come back showing a high risk. :hug:


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#41 of 43 Old 06-02-2011, 06:23 AM - Thread Starter
 
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Quote:
Originally Posted by Lynne Holloman View Post

I have isolated mild ventriculomegaly. You aren't alone. Is it just me or these diagnosis becoming way more common? Hang in there. 



I am so sorry, that must be scary. I think the worst part of all these kinds of markers, is that it still doesn't really tell you anything. You have an increased risk of this, an x% increased chance of that, but ultimately what they are saying is:"There might be an issue, but we can't say anything for sure." It stinks. Hugs to you, keeping you and your babe in my prayers.



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Sending healthy vibes to your sweet babe. I'm so sorry you're stuck in limbo with no real answers. I'm rather shocked to read that amnios are still something you have to fund yourself when preliminary results come back showing a high risk. :hug:

 

I think that once my healthcare coverage kicks in, it will be covered, but since that won't be for another 5 and a half weeks, we will have to wait. I'm not so sure I want an amnio though. I am going to try and get a level 2 ultrasound, and I think from that they will probably be able to tell with a reasonable level of certainty if we are dealing with Trisomy 18. For us the outcome is not time-sensitive, in that we won't terminate for any reason. The waiting is hard, but somehow is getting easier. I pray a lot, that helps. smile.gif


~Iris~ Catholic mama to DD1 11/15/05 * DD2 04/28/08 * brokenheart.gif06/23/2010 * and our little rainbow DS 10/07/11 love.gif
 

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#42 of 43 Old 06-02-2011, 06:28 AM
 
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Quote:
Originally Posted by Snugglebugmom View Post

 

I think that once my healthcare coverage kicks in, it will be covered, but since that won't be for another 5 and a half weeks, we will have to wait. I'm not so sure I want an amnio though. I am going to try and get a level 2 ultrasound, and I think from that they will probably be able to tell with a reasonable level of certainty if we are dealing with Trisomy 18. For us the outcome is not time-sensitive, in that we won't terminate for any reason. The waiting is hard, but somehow is getting easier. I pray a lot, that helps. smile.gif


That's my understanding too - that T18 is pretty easily diagnosed from a detailed US.  So many hugs to you, Iris  grouphug.gif

 


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#43 of 43 Old 06-02-2011, 07:01 AM - Thread Starter
 
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That's my understanding too - that T18 is pretty easily diagnosed from a detailed US.  So many hugs to you, Iris  grouphug.gif

 

 

 You're lovely. Thank you so much for your sweet words. flowersforyou.gif
 

 


~Iris~ Catholic mama to DD1 11/15/05 * DD2 04/28/08 * brokenheart.gif06/23/2010 * and our little rainbow DS 10/07/11 love.gif
 

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