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  #1  
Old 01-04-2012
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Question Obstetrics question

A 28 year old female comes with 6 weeks pregnancy.She is concerned because her previous child was diagnosed with Fragile X syndrome.She desires this pregnancy and wants to know if there is any way if she could know whether the fetus is affected or not.Which of the following would help?
A)Chorionic villous sampling
B)Amniocentesis
C)Cord blood sampling
D)USG abdomen
E)Genetic testing of both parents for detecting carriers.
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  #2  
Old 01-04-2012
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USG abdomen is the next step in management.
Very safe test and all the other tests are associated with high toxicity.
Genetic test could also be the answer.
:sorry:
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Old 01-04-2012
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Quote:
Originally Posted by podebrad View Post
USG abdomen is the next step in management.
Very safe test and all the other tests are associated with high toxicity.
Genetic test could also be the answer.
:sorry:
May i know what are the USG findings if in case the fetus suffers from fragile x syn?........thanks in advance
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Old 01-04-2012
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Quote:
Originally Posted by mayursn39 View Post
A 28 year old female comes with 6 weeks pregnancy.She is concerned because her previous child was diagnosed with Fragile X syndrome.She desires this pregnancy and wants to know if there is any way if she could know whether the fetus is affected or not.Which of the following would help?
A)Chorionic villous sampling
B)Amniocentesis
C)Cord blood sampling
D)USG abdomen
E)Genetic testing of both parents for detecting carriers.
The best way to diagnose in the above condition would be to go for genetic testing of the parents and their affected child...... preferably RFLP analysis of the DNA since fragile X is an triplet repeat expansion.
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  #5  
Old 01-05-2012
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Default It's E

The correct answer is E
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Old 01-05-2012
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i think it's a , she's only 6 week pregnancy and the only way to do such genetic testing on fetus in this early age is by cvs
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Old 01-05-2012
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chorionic villous sampling...at 10 weeks.
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  #8  
Old 01-07-2012
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As she is only 6 weeks pregnant, the answer sud be e.
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