Oireachtas Joint and Select Committees

Wednesday, 26 May 2021

Joint Oireachtas Committee on Health

Rare Diseases: Discussion

Dr. Sally Ann Lynch:

And one would not have access to a specific targeted test in a pregnancy. Sometimes we can give empiric recurrence risks, however. We are quite used to that. We can give what we call empiric recurrence risks to families and based on the clinical phenotype, we could give an estimate.

If something in that child could be picked up antenatally on an MRI scan of the mum, we would offer that. Very often, however, there is not anything. There are very soft markers. One could not, therefore, offer any definite test.

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