通过无创产前检测检测到的完全性9号三体，并通过羊水穿刺证实。

IF 1.9 Q3 PHARMACOLOGY & PHARMACY Drug Discoveries and Therapeutics Pub Date : 2023-11-18 Epub Date: 2023-10-11 DOI:10.5582/ddt.2023.01051

Feixiang Huang, Jing Zhou, Zheyun Xu, Qing Qi, Hongmei Sun, Lei Chen, Ling Wang

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引用次数: 0

摘要

完全性9号染色体三体（T9）是一种罕见且致命的染色体疾病。我们对一名有先兆流产症状的患者进行了无创产前检测（NIPT），发现胎儿有完全9号染色体三体的风险。这表明NIPT在检测9号染色体三体性方面具有一定的准确性，为罕见染色体异常的产前诊断提供了选择。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Complete trisomy 9 detected by noninvasive prenatal testing and confirmed by amniocentesis.

Complete chromosome 9 trisomy (T9) is a rare and fatal chromosomal disorder. We performed non-invasive prenatal testing (NIPT) in a patient with threatened abortion symptoms and found that the fetal was at risk for complete chromosome 9 trisomy. This shows that NIPT has certain accuracy in detecting trisomy of chromosome 9, which provide options for prenatal diagnosis of rare chromosomal abnormalities.

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来源期刊

Drug Discoveries and Therapeutics PHARMACOLOGY & PHARMACY-

CiteScore

3.20

自引率

3.20%

发文量