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Article

[Non-invasive prenatal testing and genetic analysis of a fetus with partial trisomy 21].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2020

Ma Na, Liu Jing, Hu Jiancheng, Peng Ying, Xi Hui, Jia Zhengjun, Hu Rong, Wang Hua

Abstract excerpt

OBJECTIVE: To carry out prenatal diagnosis for a fetus with high risk predicted by non-invasive prenatal testing (NIPT). METHODS: Next-generation sequencing (NGS) was used to analyze free fetal DNA (ffDNA) in the maternal plasma. Chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) were used to ascertain copy number variation in the fetus and its parents. RESULTS: SNP-array analysis and...

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Identifiers

PMID: 32924105
DOI: 10.3760/cma.j.cn511374-20191121-00601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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