Re: question about testing...

[Guest guest]

Leslee

If it says " the majority " of cells then that IS mosaicism. Otherwise it would

say 100%. Our wonderful Research Chair, Lipscomb Sund, wrote an

explaination about karyotypes and it is posted on our site to help you

understand how to read a karyotype. This may help you and your friend. The

doctor may be the type that just doesn't want to say " mosaicism " because he

doesn't understand it and he understands T21 better! (there are many out there

who are like that)

She could ask the doctor for the percentage of cells that were in the

" majority " and that might give her an answer. Knowing what the percent is, will

not change how she raises her child, but knowing the real diagnosis will help

her understand how to raise her child. Invite her to join IMDSA! We would love

to have her in our support group!

Kristy

Leslee Boswell wrote:

I have recently met a young woman who has a 4 month old with a DS

diagnosis. Well, she keeps getting asked if her child has Mosaic Down Syndrome

and she says no. She started asking me questions and then got a copy of the FISH

test (which I am not familiar with). This was the only test that diagnosed her

daughter with DS. It states that the " majority " of cells tested have the extra

chromosome. To me, this means Mosaicism but her doctor said nothing. She keeps

asking me if it is that important that she seek out more testing and if so, what

would that entail?? My daughter was tested at birth by a blood test that went

straight to a geneticist which determined her level of Mosaicism. I really don't

know what to tell her?? Help?? She feels these tests might really be invasive

and doesn't really feel that it matters if she has MDS????

Leslee

[Guest guest]

I've never seen my daughters results from the amino test. I just took their

word for it that she had DS. I get questioned all the time about her having

MDS. I think I will call the doctor to get the test results.

Re: question about testing...

Leslee

If it says " the majority " of cells then that IS mosaicism. Otherwise it would

say 100%. Our wonderful Research Chair, Lipscomb Sund, wrote an

explaination about karyotypes and it is posted on our site to help you

understand how to read a karyotype. This may help you and your friend. The

doctor may be the type that just doesn't want to say " mosaicism " because he

doesn't understand it and he understands T21 better! (there are many out there

who are like that)

She could ask the doctor for the percentage of cells that were in the

" majority " and that might give her an answer. Knowing what the percent is, will

not change how she raises her child, but knowing the real diagnosis will help

her understand how to raise her child. Invite her to join IMDSA! We would love

to have her in our support group!

Kristy

Leslee Boswell wrote:

I have recently met a young woman who has a 4 month old with a DS diagnosis.

Well, she keeps getting asked if her child has Mosaic Down Syndrome and she says

no. She started asking me questions and then got a copy of the FISH test (which

I am not familiar with). This was the only test that diagnosed her daughter with

DS. It states that the " majority " of cells tested have the extra chromosome. To

me, this means Mosaicism but her doctor said nothing. She keeps asking me if it

is that important that she seek out more testing and if so, what would that

entail?? My daughter was tested at birth by a blood test that went straight to a

geneticist which determined her level of Mosaicism. I really don't know what to

tell her?? Help?? She feels these tests might really be invasive and doesn't

really feel that it matters if she has MDS????

Leslee

[Guest guest]

Did they ever do a test after she was born or are you just going by the amnio?

If you get a karyotype, you can go to our site to understand how to read it.

And, if you have questions just ask!

Kristy

Bolduc wrote:

I've never seen my daughters results from the amino test. I just took

their word for it that she had DS. I get questioned all the time about her

having MDS. I think I will call the doctor to get the test results.

Re: question about testing...

Leslee

If it says " the majority " of cells then that IS mosaicism. Otherwise it would

say 100%. Our wonderful Research Chair, Lipscomb Sund, wrote an

explaination about karyotypes and it is posted on our site to help you

understand how to read a karyotype. This may help you and your friend. The

doctor may be the type that just doesn't want to say " mosaicism " because he

doesn't understand it and he understands T21 better! (there are many out there

who are like that)

She could ask the doctor for the percentage of cells that were in the " majority "

and that might give her an answer. Knowing what the percent is, will not change

how she raises her child, but knowing the real diagnosis will help her

understand how to raise her child. Invite her to join IMDSA! We would love to

have her in our support group!

Kristy

Leslee Boswell wrote:

I have recently met a young woman who has a 4 month old with a DS diagnosis.

Well, she keeps getting asked if her child has Mosaic Down Syndrome and she says

no. She started asking me questions and then got a copy of the FISH test (which

I am not familiar with). This was the only test that diagnosed her daughter with

DS. It states that the " majority " of cells tested have the extra chromosome. To

me, this means Mosaicism but her doctor said nothing. She keeps asking me if it

is that important that she seek out more testing and if so, what would that

entail?? My daughter was tested at birth by a blood test that went straight to a

geneticist which determined her level of Mosaicism. I really don't know what to

tell her?? Help?? She feels these tests might really be invasive and doesn't

really feel that it matters if she has MDS????

Leslee

[Guest guest]

Kristy,

The amino tested 20 cells is what the doctor told me. Never saw the report.

When my daughter had her open heart surgery, we asked for her to be retested

again but to test 100 cells. Only 30 were tested and I never saw that report

either. All I was told from the amino that it was karyptype 2. I do not know

what that means. What do you think?

Re: question about testing...

Leslee

If it says " the majority " of cells then that IS mosaicism. Otherwise it would

say 100%. Our wonderful Research Chair, Lipscomb Sund, wrote an

explaination about karyotypes and it is posted on our site to help you

understand how to read a karyotype. This may help you and your friend. The

doctor may be the type that just doesn't want to say " mosaicism " because he

doesn't understand it and he understands T21 better! (there are many out there

who are like that)

She could ask the doctor for the percentage of cells that were in the

" majority " and that might give her an answer. Knowing what the percent is, will

not change how she raises her child, but knowing the real diagnosis will help

her understand how to raise her child. Invite her to join IMDSA! We would love

to have her in our support group!

Kristy

Leslee Boswell wrote:

I have recently met a young woman who has a 4 month old with a DS diagnosis.

Well, she keeps getting asked if her child has Mosaic Down Syndrome and she says

no. She started asking me questions and then got a copy of the FISH test (which

I am not familiar with). This was the only test that diagnosed her daughter with

DS. It states that the " majority " of cells tested have the extra chromosome. To

me, this means Mosaicism but her doctor said nothing. She keeps asking me if it

is that important that she seek out more testing and if so, what would that

entail?? My daughter was tested at birth by a blood test that went straight to a

geneticist which determined her level of Mosaicism. I really don't know what to

tell her?? Help?? She feels these tests might really be invasive and doesn't

really feel that it matters if she has MDS????

Leslee

[Guest guest]

I don't know what that means but perhaps our Research Chairperson, ,

can answer that question for you.

Kristy

Bolduc wrote:

Kristy,

The amino tested 20 cells is what the doctor told me. Never saw the report. When

my daughter had her open heart surgery, we asked for her to be retested again

but to test 100 cells. Only 30 were tested and I never saw that report either.

All I was told from the amino that it was karyptype 2. I do not know what that

means. What do you think?

Re: question about testing...

Leslee

If it says " the majority " of cells then that IS mosaicism. Otherwise it would

say 100%. Our wonderful Research Chair, Lipscomb Sund, wrote an

explaination about karyotypes and it is posted on our site to help you

understand how to read a karyotype. This may help you and your friend. The

doctor may be the type that just doesn't want to say " mosaicism " because he

doesn't understand it and he understands T21 better! (there are many out there

who are like that)

She could ask the doctor for the percentage of cells that were in the " majority "

and that might give her an answer. Knowing what the percent is, will not change

how she raises her child, but knowing the real diagnosis will help her

understand how to raise her child. Invite her to join IMDSA! We would love to

have her in our support group!

Kristy

Leslee Boswell wrote:

I have recently met a young woman who has a 4 month old with a DS diagnosis.

Well, she keeps getting asked if her child has Mosaic Down Syndrome and she says

no. She started asking me questions and then got a copy of the FISH test (which

I am not familiar with). This was the only test that diagnosed her daughter with

DS. It states that the " majority " of cells tested have the extra chromosome. To

me, this means Mosaicism but her doctor said nothing. She keeps asking me if it

is that important that she seek out more testing and if so, what would that

entail?? My daughter was tested at birth by a blood test that went straight to a

geneticist which determined her level of Mosaicism. I really don't know what to

tell her?? Help?? She feels these tests might really be invasive and doesn't

really feel that it matters if she has MDS????

Leslee