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。
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
Drug Discoveries and Therapeutics PHARMACOLOGY & PHARMACY-
CiteScore
3.20
自引率
3.20%
发文量
51
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