Re: Prenatal diagnostic Tests

[Guest guest]

Hi

Can you explain this to me a bit more basic, I don't really

understand. What does 8/20 mean? Are they counting the number of

chromosomes in 20 cells and only examining 8? I'm trying to relate

this to my situation where they counted the number of chromosomes in

15 cells and the numbers all came up normal. There was no mention of

anything else, so I'm unsure if they then go ahead and examine any.

I know they examined cells when they went back and got a different

count result on the second test they conducted on my sample.

Are you saying that of all people who have had an amnio conducted and

their child was born with MDS that 89% are given a false negative

result? If so I would like to be able to include this info in my

letter with some references as you can see the lab here is looking at

even less cells than is common practice in the USA.

Regards Narelle

> >

> > Hi Kristy

> >

> > I am wondering if you or anyone else for that matter have any

> > statistics on how often MDS is missed in prenatal diagnostic

> tests? I

> > am writing a letter to the lab that did my amnio as I believe

that

> > their policy of looking at only 15 cells needs to be reviewed as

> it did

> > not pick up that Lily had MDS and I think that because MDS makes

> up

> > such a small percentage of their diagnosis that they are

> disregarding

> > it. From what I have read it seems that in the states your tests

> look

> > at 20 cells and still a lot get missed. Is that the case and I

> was

> > wondering if any studies have been done on what percentage of MDS

> cases

> > get missed in amnios.

> >

> > Narelle mum to Eve 19 mths and Lily 12wks

> >

>

[Guest guest]

They are required to keep them for three years.

>

> Hi

>

> I agree with 30 to 45 cells because after Lily was born the Dr asked

to

> lab to redo the test (they obviously keep the sample for some time

to

> my surprise) and this time they looked at 39 cells and 15 were

> affected. So this larger sample was a lot more accurate.

>

> Narelle

>

[Guest guest]

500 cells is the best measure. Request 500.

>

> Hi Narelle,

>

> I am a mom of a 3 year old with MDS. I am pregnant and went to a

> genetic counselor. She advised me that she would ask the lab to

test

> 30-45 cells for MDS since it is often missed with a 15 cell count. I

> don't know if this makes the testing more accurate, but the medical

> profession is aware that with mosaicism of any kind, 15 cells aren't

> always enough to count.

>

[Guest guest]

I am looking for it in my files, but I just realized that I can

request it again from MCG. I will try to either find the hard copies

of the studies, or I will request another one. Right now, i am also

trying to find my box with a letter from Dr. Opitz that Dr. Flannery

wants and also the pedigrees I have from my family that he also

wants.

I am moving boxes into a storage unit, trying to get a book

published, homeschooling, battling tornadic weather and trying to

keep us all well with these respiratory issues. I need more time in

a day! LOL! Thank God the days are starting to get longer.

> > Hi Kristy

> >

> > I am wondering if you or anyone else for that matter have any

> > statistics on how often MDS is missed in prenatal diagnostic

> tests? I

> > am writing a letter to the lab that did my amnio as I believe

that

> > their policy of looking at only 15 cells needs to be reviewed as

> it did

> > not pick up that Lily had MDS and I think that because MDS makes

> up

> > such a small percentage of their diagnosis that they are

> disregarding

> > it. From what I have read it seems that in the states your tests

> look

> > at 20 cells and still a lot get missed. Is that the case and I

was

> > wondering if any studies have been done on what percentage of

MDS

> cases

> > get missed in amnios.

> >

> > Narelle mum to Eve 19 mths and Lily 12wks

> >

> >

> >

> >

> >

> >

> >

[Guest guest]

Hi, 's first Kariotype said low level mosaicism cannot be ruled

out. When we had another test done when he was two they took 50 cells and

only looked at five cells. According to 's pediatrician and a

different genetics this test was inconclusive. The reason why he said you

would have to look at every single cell some times in the blood line to find

mosaic. However, they only do this if they are looking for cancer. So we

go by 's original test and the clinical test of mosaic. 's

appearance has completely changed since he was a baby. If you know what you

are looking for than you can tell. Majority of people do not even know

that he had mDs.

From: MosaicDS [mailto:MosaicDS ] On Behalf

Of

Sent: Saturday, March 15, 2008 9:53 AM

To: MosaicDS

Subject: Re: Prenatal diagnostic Tests

500 cells is the best measure. Request 500.

>

> Hi Narelle,

>

> I am a mom of a 3 year old with MDS. I am pregnant and went to a

> genetic counselor. She advised me that she would ask the lab to

test

> 30-45 cells for MDS since it is often missed with a 15 cell count. I

> don't know if this makes the testing more accurate, but the medical

> profession is aware that with mosaicism of any kind, 15 cells aren't

> always enough to count.

>

[Guest guest]

Narelle,

Eight out of twenty cells (8/20). What generally happens is that 20

cells are used for determining the diagnosis rather than 500

counted. BUT, if you go back and get your reports, you will see that

only 7 or 8 were used to determine the diagnosis. Then out of those,

ususally 1 or 2 (2 usually) are karyotyped (taken a picture of).

Even if ALL 20 cells were noticed to have Trisomy 21, this is not an

accurate look at the cells in the body. You must look at 459 cells

in order to exclude mosaicism to 1% within 99% confidence limits.

So, instead of such an odd number, 500 is geenrally the quantitative

amount sought. BUT I do also want to say that you can have 2,000

blood cells tested and still miss it. (Been there, done that)

Once they give a report, that is it. No, they do not create extra

work for themselves and go back and just keep counting. REASON given

by my geneticist: " They only need to count the number of cells that

proves they are right and you are wrong. " For example, if one is

sure that your newborn baby (and why they pick on newborns, I will

never know!!!) has trisomy 21 or Down Syndrome of some sort, they

will initially order 20 cells. if they do not find it, they will go

to 50, and so on. They will only do the minimum to prove they are

right. Why go further. They tested 20 cells (7/20) on my son

and " proved " Trisomy 21 in 100% of his cells. However, because I am

knowledgeable and a very persistent person (overexpression of my

genes!!!), I did not stop asking for another test (did not want the

first one) until I got a more quantitative test and someone to

actually sit down with my children and I. This happened THREE AND A

HALF YEARS later. I looked for THREE AND A HALF YEARS!!! All the

while, I " KNEW " their diagnosis was GROSSLY WRONG. However, the

damage had been done. It did comfort me somewhat and I got somewhat

of a justice proving them wrong on the diagnosis. They still do not

know they were wrong (and they should) and the law still ahs not

been changed to require more quantitative counts (and it should).

And they still think I am an idiot, as they so called me in ten

different ways. HOWEVER, I know see them as the ignorant ones. (And

we all know that people like this will never catch up, as they do

not have a delay. They have a permanent mindset of " don't confuse me

with the facts. " )

The study/report deals with " missed mosaicism " when a low number of

cells are used to determine the diagnosis of trisomy 2 Down

Synde=rome (a different diagnosis/condition than Mosaic Down

Syndrome). The confidence limits are based on 95% confidence limits

and 99% confidence limits.

I do see where you are coming from...if they missed the mark on

Trisomy 21, then are they missing the mark on mosaicism and perhaps

labeling something wrong here? I wish I had the answer for you on

that one, as I have already deliberated that one. All I do know is

that I am trying diligently to pass " Charlie Hart's Law " (well not

doing everything I can at this moment, but I soon will be and I need

a whole lot of support) to require these labs/doctors to test and

count all of 500 cells when trying to determine such a diagnosis.

From what I can intellligently tell, with 500 cells counted, there

is still a 1% missed mosaicism. erhaps that is the rate of missed

mosaicism in the tissues? Not sure on that one.

I hope this has helped you?

> > >

> > > Hi Kristy

> > >

> > > I am wondering if you or anyone else for that matter have any

> > > statistics on how often MDS is missed in prenatal diagnostic

> > tests? I

> > > am writing a letter to the lab that did my amnio as I believe

> that

> > > their policy of looking at only 15 cells needs to be reviewed

as

> > it did

> > > not pick up that Lily had MDS and I think that because MDS

makes

> > up

> > > such a small percentage of their diagnosis that they are

> > disregarding

> > > it. From what I have read it seems that in the states your

tests

> > look

> > > at 20 cells and still a lot get missed. Is that the case and

I

> > was

> > > wondering if any studies have been done on what percentage of

MDS

> > cases

> > > get missed in amnios.

> > >

> > > Narelle mum to Eve 19 mths and Lily 12wks

> > >

> >

>

[Guest guest]

And this is what happens with mosaicism. THE CELLS CHANGE!!!!

This is ONE WAY you as a parent can tell that the diagnosis is

defintely wrong if you have a diagnosis of Trisomy 21. If your

child's epicanthic folds start to disappear from what they looked

like or they start looking typically like everyone else with a few

minor traits that you most likely see in others in your

family....then the diagnosis was WRONG. This is what happened to me

and also I began to look at baby pictures of my other children and

saw things that I NEVER saw before they picked my son apart. if you

really sit down and know what you are looking for, then you will

know. People can tell right off the bat that my Charlie Hart is a

high-functioning child with a lot of smarts. Now that he is hearing

better and starting to talk, I have a feeling that a lot more people

are going to notice his " normalcy " . I will wager that once he talks

(because he does not have tongue thrusting behavior) that no one

will know the difference (but us). ;0)

> >

> > Hi Narelle,

> >

> > I am a mom of a 3 year old with MDS. I am pregnant and went to a

> > genetic counselor. She advised me that she would ask the lab to

> test

> > 30-45 cells for MDS since it is often missed with a 15 cell

count. I

> > don't know if this makes the testing more accurate, but the

medical

> > profession is aware that with mosaicism of any kind, 15 cells

aren't

> > always enough to count.

> >

>

>

>

>

>

>

[Guest guest]

Hi

Yes, thank you, that does help. Although the study has been done from

a slightly different angle, it's all much the same thing. Basically by

only doing 15 cells it's not that hard to get either 15 unaffected

cells or 15 affected cells and it does seem like the labs are just

trying to get away with doing as little as possible to give a

diagnosis, however inaccurate it may be. It is a very frustrating

matter and I am just grateful that the Paediatrician was switched on

when Lily was born as she has none of the obvious indicators of DS, and

her facial features were so slight that he tells me now that if he'd

known I had a negative amnio result he would not have mentioned

anything. We were very lucky.

Thanks for your help.

Narelle

[Guest guest]

MCG (The Medical College of Georgia) in Augusta, Georgia is a very

good lab. They are willing to come in on Sunday to finish the labs.

They did a 2,000 blood cell count on my son. HOWEVER, this is not

the lab of choice for buccal smears or skin cell tests. I need a

good referral for this....someone who tests at least 1,000 cells.

(And accepts out-of-state medicaid?)

>

> Hi

>

> Yes, thank you, that does help. Although the study has been done

from

> a slightly different angle, it's all much the same thing.

Basically by

> only doing 15 cells it's not that hard to get either 15 unaffected

> cells or 15 affected cells and it does seem like the labs are just

> trying to get away with doing as little as possible to give a

> diagnosis, however inaccurate it may be. It is a very frustrating

> matter and I am just grateful that the Paediatrician was switched

on

> when Lily was born as she has none of the obvious indicators of

DS, and

> her facial features were so slight that he tells me now that if

he'd

> known I had a negative amnio result he would not have mentioned

> anything. We were very lucky.

>

> Thanks for your help.

>

> Narelle

>