Please Help (Pre-Natal Diagnosis of Thalesimia Major) 
Author Message
 Please Help (Pre-Natal Diagnosis of Thalesimia 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 Diagnosis 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 my wife got 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. After the tests 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 having Thal major of type Beta. We got back to
the doctors who did the test and what they told us is really annoying. In the
first instance they said that there always was 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 the test was 100% accurate)and all the previous
examples of failure, they quoted, date back to 14 to 17 years when such
testing procedure was just introduced. However, quite recently they told

Since genetic mutation for babies differ due to a wide range of factors
including race. Therefore, after analyzing the type of mutation in
different cases they choose different "probes" for DNA test. Unfortunately
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 negative result.

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

I can not tell you how dabestating the effects this wrong diagnosis have
been on  put our lives. While the doctors seem to take no responsibility
on their part. Being unaware of the Technical aspects I am unable to do
anything, against them, at all. I wonder if there is someone 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 until our case?
*If it is a new probe what would have been doing until 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?

and above all
* Is there anyone who can act as an independent analyst if I ask the
doctors to send him/her their procedure and test results and our {*filter*}

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

S. Qureshi

Tue, 14 Jan 1997 09:24:30 GMT
 [ 1 post ] 

 Relevant Pages 

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

2. Please Help (Pre-natal diagnosis of Thal Major)

3. Papers on cost of pre-natal nutrition?

4. PLEASE READ...I need major help!!!!

5. PLEASE help us Pre-empt Cancer

6. major concerns-- please help!

7. Help with Diagnosis Please!


9. Beijing-Help on diagnosis for coma patient please

10. Please help us to make the diagnosis to one patient

11. HELP with cancer diagnosis, please

12. please help with diagnosis -- getting desperate

Powered by phpBB® Forum Software