Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Abstract Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. Methods CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnost...

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Bibliographic Details
Main Authors: Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Pregnancy and Childbirth
Subjects:
High-throughput sequencing, copy number variation
Prenatal diagnosis
Noninvasive prenatal testing
Chromosomal diseases
Online Access:https://doi.org/10.1186/s12884-021-03918-y

Internet

https://doi.org/10.1186/s12884-021-03918-y

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