Please Help (Pre-natal Diagnosis of Thal Major) 
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 Please Help (Pre-natal Diagnosis of Thal Major)

Hi guys I am an engineering student and hope that there is somebody out
there who can help me with expert advise on Pre-Natal Diadnosis of Thal
Major of type Beta.

Me and my wife both are Thal minor and incidentally both of type Beta. We
did not know about this until the time when my wife was pregnent. The
doctors suggested that we should go through Pre-natal Diagnosis to
identify if the fetus is Thal Major. They did CVS test which, as long as I
know, involves DNA testing etc. They told us that the baby was just fine
and he was thal minor like we both are. However, after about 5 month from
his birth he has been diagnosed as Thal major of type Beta. We got back to
the doctors who did the test and what they told us is really annowing. In
the first instance they said that there is a 2% chance of error involved
with the technology (this we were not told at the time of test, on the
contrary we were told that it is 100% accurate)and all theprevious examples
of failure date back to 14 to 17 years. However, quite recntly they have
told us;

Since genetic mutation for babies differ due to a wide range of factors
including race. Therefore, after analysing the type of mutation in
different cases they choose different "probe" for DNA test. Unfrotunately
the mutation in our case (according to the doctors) has been of a very rare
type and the corresponding probe they used was never used "and probably was
never tested" before. As such there was an error associated with the probe,
which was never identified due to the lack of use of the probe, they used
and hence got the wrong negetive result.

Accroding to my investigations there is another test called "Hemeoglobin
Chain Synthesis" which was done in very early times but is still in use,
and is highly reliable in terms of diagnosing Thal Major.

I can not tell you that what effects this wrong diagnosis has put onto our
lives. While the doctors seem to take no responibility on their part.
Being unaware of the Technical aspects I am unable to do anything, against
them, at all. Is there anyone who can answer my following questions;

How likely it is that the genetic mutation in our case is extremely rare?
Is it possible that no other couple had the identical conditions?
Is it possible that the probe was never used and tested, and the associated
error went unchecked untill our case?
If it is a new probe what would have been doing untill now?
Were'nt the doctors morally obliged to tell us that it was the first time
they were using an untested procedure in our case?
If they knew that the procedure was never used was'nt it necessary to do
the backup test such as Heomoglobin Chain Synthesis etc?

I'll highly appreciate if someone takes interest and help me out with
these questions.

S. Qureshi

Sun, 12 Jan 1997 11:52:08 GMT
 [ 1 post ] 

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