A 32-year-old female asked:
I asked about thanataphoric dysplasia & i understand it is a new gene mutation, but what is its risk of recurrence in following pregnancy?
1 doctor answer • 1 doctor weighed in
Obstetrics and Gynecology 22 years experience
Testing: If neither parent is affected by achondroplasia then this is most likely a de novo mutation in the FGFR3 gene. This means clinically that the risk of recurrence is not higher than the baseline risk for everyone (1/20,000). Mosaicism (carrying gene but not expressing) by testing the parents DNA through targeted molecular genetic testing.
2.9k viewsAnswered >2 years ago
Last updated May 3, 2015
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