Prenatal diagnosis (PND) in Joubert syndrome. Goals of PND. Provide reassurance/reduce uncertainty Prepare for the birth of an affected child Delivery route Delivery location Emotional preparation Assure the birth of an unaffected child Pregnancy termination
Recurrence risk = 25%
ALL of these choices are valid.
29 wks gestation
Aslan et al. 2002
US (not JS)
Fetal MRI (JS)
adapted from Doherty et al. 2005
We are happy to consult with OB providers/radiologists about imaging
diagnosis. We prefer to be involved starting before/early in the pregnancy.
Gene Estimated frequency
CC2D2A ~10% INPP5E ?
TMEM216 ~ 4%
MKS1 ~ 2%
Frequency of mutations in patients with JS
Chorionic villus sampling