Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Introduction: Circulating fetal cells isolated from maternal blood can be used for prenatal testing, representing a safe alternative to invasive testing. The present study investigated the potential of cell-based noninvasive prenatal testing (NIPT) for diagnosing monogenic disorders dependent on the...

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Detalles Bibliográficos
Autores principales: Jeppesen, Line Dahl, Hatt, Lotte, Singh, Ripudaman, Schelde, Palle, Ravn, Katarina, Toft, Christian Liebst, Laursen, Maria Bach, Hedegaard, Jakob, Christensen, Inga Baasch, Nicolaisen, Bolette Hestbek, Andreasen, Lotte, Pedersen, Lars Henning, Vogel, Ida, Lildballe, Dorte Launholt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565008/
https://www.ncbi.nlm.nih.gov/pubmed/37829280
http://dx.doi.org/10.3389/fgene.2023.1188472

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565008/
https://www.ncbi.nlm.nih.gov/pubmed/37829280
http://dx.doi.org/10.3389/fgene.2023.1188472

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