Genetic screenings/tests? - Page 4 « Back to Group Discussions

[porcelina]

I just wanted to point out some very important information on the Maternit21 test. Our genetic counselor (at a large NE teaching hospital) told us that if you get a POSITIVE result, you really only have 70-80 percent chance of having a TRUE positive, which would have to be determined by amnio. This number is based on the actual data they have in the hospital. I find it abhorrent that the company proclaims that the rate of false positive is less than 1 percent, based on one clinical study that they performed several years ago. Real data need to be collected on this exam and the true numbers need to be counseled to patients. The detection rate continues to be high, so if you get a negative, it is pretty reliable. However, if you get a positive, it is not nearly 99 percent accurate.
 

[thecoffeebean]

Porcelina, are you supposed to get your results back soon? Fingers crossed for great results.

[porcelina]

Coffeebean, we found out on Monday that the M21 said positive for Downs. I went in that day and had an amnio with FISH, and today it was mostly confirmed. They found 3 chromosomes on gene 21 for most of the cells that they counted. We have already been through a huge gamut of emotions, as it is just so hard to know what is best for our family.
 

[somegirl99]

porcelina that is really tough, thinking of you and your family.
 

[thecoffeebean]

Oh, no, porcelina. I didn't realize. You are in my thoughts.

[carmen358]

 porcelina

[mellybelly]

Porcelina, you know I'm thinking about you.

And, as for me, I got my MaterniT21 results yesterday. Negative for all three and we're having a boy. Our third. I'm so relieved, but am still having an amnio on Monday. I think I'll feel really relieved when that is behind me.

[mamapigeon]

Porcelina, that sounds like a hard situation to be in. I hope that you and your family have lots of support during your decision making process.

[mamapigeon]

Mellybelly- congratulations on your boy!

[askew]

Porcelina sending you light and love. My goddaughter  has T21, and I have a child with a genetic condition. Pm me if I can be of help. 

Melly- congratulations on your boy! 

[cardigan]

porcelina: it sounds like a very a trying position for you and your family. I hope you are getting lots of support.

[somegirl99]

Melly, congrats on your boy and your negative results!
 

[CraftyMcGluestick]

Porcelina. Thinking of you.

[Banana731]

Porcelina, that's a lot to take in and sort out. I hope that you find your own peace about it soon.

[tinynyota]

Porcelina, sending you strength and peace as you process this news. Huge hugs.

Melly - yay!!

[Banana731]

Melly, that's lovely news. Congrats on your son!

[thecoffeebean]

Melly, that's great! Congratulations!

[Stormikris]

porcelina I am thinking about you and wishing you peace with your decision. Having been faced with the decision to terminate already I can understand it is not easy.

melly happy to hear your news. Congratulations on another boy.

[GISDiva]

Oh goodness, I totally missed this, porcelina.  Will be thinking of you and your family...

And good to hear, Melly!

[porcelina]

Thanks everyone for all the support. We do have a lot of support from our families and have a contact of a local mom whose child has DS. It is a very excruciating and unexpected position to be in. I am probably going to be signing off from MDC and social media for a while as we figure out how to move forward. Best wishes to all of you!