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[Application of noninvasive fetal trisomy testing based on massively parallel sequencing for the detection of chromosomal deletions and duplications].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2014

Wen Simin, Wei Fubing, He Yi, Xu Wanfang, Xie Rungui, Zhang Xiaoyan, Liu Yanhui, Xiong Fu

Abstract excerpt

OBJECTIVE: To assess the value of noninvasive fetal trisomy testing based on massively parallel sequencing for the detection of chromosomal deletions and duplications. METHODS: Peripheral venous blood was taken from pregnant women with a high risk. Free fetal DNA in maternal plasma was used for library construction and subjected to massively parallel sequencing. Positive results were validated by traditional...

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Identifiers

PMID: 25297580
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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