A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated with the Italian National Registry of Facioscapulohumeral Myopathy (FSH) showed that :
- 60 couples requested a preconception consultation for FSH, which highlighted at least one of the future parents with a D4Z4 reduction in 52 of these couples,
- Among the 26 couples who went on to have one or more children, 8 requested prenatal diagnosis, 2 underwent donor IVF.
- In parallel, there were 50 requests for prenatal diagnosis made by 36 couples over this 13-year period, including the 8 couples who had previously undergone a preconception consultation.
- The results of these prenatal diagnoses were positive for 27 pregnancies: 15 pregnancies were carried to term and 12 were terminated.
