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Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort

OBJECTIVE: 22q11.2 deletion is more common than trisomies 18 and 13 combined, yet no routine approach to prenatal screening for this microdeletion has been established. This study evaluated the clinical sensitivity and specificity of a targeted cell‐free DNA (cfDNA) test to screen for fetal 22q11.2...

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Detalles Bibliográficos
Autores principales: Bevilacqua, E., Jani, J. C., Chaoui, R., Suk, E.‐K. A., Palma‐Dias, R., Ko, T.‐M., Warsof, S., Stokowski, R., Jones, K. J., Grati, F. R., Schmid, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518527/
https://www.ncbi.nlm.nih.gov/pubmed/34090308
http://dx.doi.org/10.1002/uog.23699