What is it about?
The paper describes the experiences of the couples who asked for preconception and/or prenatal counseling and/or prenatal diagnosis for FSHD at our center. A multidisciplinary approach has been adopted, with the involvement of neurologists, gynecologists, and (when needed) psychiatrists. Regarding genetic counseling, we have conducted in-depth genetic consultations evaluating the phenotypic variability in the families.
Featured Image
Photo by CDC on Unsplash
Why is it important?
A multidisciplinary approach is of pivotal importance for prenatal counseling, especially in complex genetic diseases such as FSHD. An in-depth study of the genotype-phenotype correlation in the proband's whole family allows the couple to take a fully informed decision.
Perspectives
We hope this work will increase interest in multidisciplinary and precision medicine, and also in complex genetic diseases. Patients have questions and needs that have to be answered, as requests for preconception counseling have been increasing rapidly over the past few years.
Maria Francesca Di Feo
Universita degli Studi di Genova
Read the Original
This page is a summary of: Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach, Health Science Reports, April 2022, Wiley,
DOI: 10.1002/hsr2.614.
You can read the full text:
Contributors
The following have contributed to this page
