Prenatal diagnosis of known familial mutations
This prenatal diagnosis is highly recommended in those pregnancies in which:
- Any progenitor (or both) is/are asymptomatic carrier/s for a known mutation, in diseases with recessive inheritance.
- One of the progenitors is diagnosed of a dominant inheritance genetic disease.
- One of the previous children has a genetically diagnosed hereditary disease.
- There is a possible recurrence risk due to a potential germ line mosaicism.
To carry out a prenatal diagnosis to detect a known familial mutation, it is mandatory to have the previous genetic report in which the familial mutation has been fully described.
Whenever possible, it is highly recommended to send sample of any affected relative. This Índex will be used as a positive control of the genetic test.
It is also mandatory to send a peripheral blood sample of the pregnant mother to rule out a maternal contamination of the fetal sample, by STRs analysis. This analysis also allows to determine the sex of the fetus, indispensable to study X-linked diseases.