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.
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
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!
New Haven, Connecticut
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.
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Update: June 2012