Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

Objective: Amniocentesis, chorionic villi sampling and first trimester combined testing are able to screen for common trisomies 13, 18, and 21 and other atypical chromosomal anomalies (ACA). The most frequent atypical aberrations reported are rare autosomal aneuploidies (RAA) and copy number variati...

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Detalles Bibliográficos
Autores principales: Harasim, Thomas, Neuhann, Teresa, Behnecke, Anne, Stampfer, Miriam, Holinski-Feder, Elke, Abicht, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8777675/
https://www.ncbi.nlm.nih.gov/pubmed/35054066
http://dx.doi.org/10.3390/jcm11020372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8777675/
https://www.ncbi.nlm.nih.gov/pubmed/35054066
http://dx.doi.org/10.3390/jcm11020372

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