Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations

Introduction: Non-invasive prenatal screening (NIPS) via cell-free DNA (cfDNA) screens for fetal chromosome disorders using maternal plasma, including 22q11.2 deletion syndrome (22q11.2DS). While it is the commonest microdeletion syndrome and has potential implications for perinatal management, pren...

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Detalles Bibliográficos
Autores principales: Soster, Erica, Dyr, Brittany, Rafalko, Jill, Almasri, Eyad, Cacheris, Phillip
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/PMC10036386/
https://www.ncbi.nlm.nih.gov/pubmed/36968594
http://dx.doi.org/10.3389/fgene.2023.1146669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10036386/
https://www.ncbi.nlm.nih.gov/pubmed/36968594
http://dx.doi.org/10.3389/fgene.2023.1146669

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