Prenatal Diagnosis
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Pitt-Hopkins syndrome.
What is the chance of recurrence of a child with PTHS if a child is born with PTHS in a family? How can this be determined reliably in a subsequent pregnancy?
Recommendation(s)
Prenatal Diagnosis
R6 Prenatal testing should be offered to families in which the diagnosis of PTHS in the index patient is molecularly confirmed.
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R7 Prenatal testing for PTHS outside of a known familial genetic alteration remains challenging due to the current difficulty in interpreting reliably all variants that will be obtained. Use of this type of testing as a screening method is not recommended at the present time.
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