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Name: Renee
Status: Other
Age: 30s
Location: N/A
Country: N/A
Date: N/A 


Question:
I am a 37 year old, mother of two, pregnant for the third time. There is a suspcion that i'm carrying a baby with a chromisonal defect, specifically Trisomy 13 or Trisomy 18. I'd like to know about physically noticable signs of the defects in utero as well as long term prognosis.



Replies:
There is a website at http://www.geneticalliance.org/ for the Genetic Alliance -- a coalition of support groups for families and professionals with information about all sorts of genetic conditions. You can search on that site for particular chromosomal anomalies (click on "Find a Support Group").

The searches I used were Trisomy 13 and Trisomy 18, and I came up with two sites that may be helpful for you. Good luck!

http://209.67.209.39/data/ORG1012.html
http://209.67.209.39/data/ORG1245.html

Christine Ticknor
Ph.D. Student
Yale University
New Haven, Connecticut


Renee,

If there is 'suspicion' of a chromosomal defect, I assume that you've spoken with your obstetrician or a genetic counselor. What is the basis for that suspicion, amniocentesis? Since you have noted specifically Trisomy 13 or Trisomy 18, it sound like you have some information already and you need to talk further with your physician. As a developmental biologist, I would indicate to you that the physical defects associated with these syndromes are very serious and the prognosis is not good.

CED



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