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Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies

Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal chromosomal aneuploidies. However, the ability of NIPT-Plus to detect copy number variation (CNV) is debatable. Accordingly, we assessed the efficiency of NIPT-Plus to detect clinically significant fetal CNV. We performed...

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Detalles Bibliográficos
Autores principales: Xue, Huili, Yu, Aili, Lin, Min, Chen, Xuemei, Guo, Qun, Xu, Liangpu, Huang, Hailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9672043/
https://www.ncbi.nlm.nih.gov/pubmed/36396840
http://dx.doi.org/10.1038/s41598-022-24337-9