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I am 6 months pregnant and I want this baby more than anything else. But my sister has genetic mutation called niemann pick and it was passed on to her daughter who could survive only for 2.5 yrs. I just got to know that even I have to undergo the same test...if my baby also has the same syndrome, can I get it aborted now?? I know many people would think of it as murder but I have seen my sisters lil daughter go through so much pain that it's impossible for me to even think of seeing that again in my child. Please advice
I'd say just have your child. I will not say whether I am prochoice or prolife, but either way, you will never know what you could miss by not having your child!
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The possiblity of your child having Niemann Pick is beyond slim.  You need to be a carrier (1:4 chance if sister is a carrier) and your husband/boyfriend would have to be a carrier (odds of 1:40,000).  And then, if you and your husband are both carriers there is only a 1:4 chance your offspring will have it.  Dont even worry about it.  The odds are so astronimical.  I am assuming, since you stated that your sister's daughter will live to 2.5yrs that she has Niemann Pick disease Type A (both parents must carry the Type A mutuation).  btw...there are 3 different Types of Niemann Pick Disease. Persons with Type B can live full lives.

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