通过DNA拷贝数分析提高产前筛查的准确性。 - Suppr

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超能文献

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis.

作者信息

Strom Charles M, Maxwell Megan D, Owen Renius

机构信息

Quest Diagnostics Nichols Institute, San Juan Capistrano, CA

出版信息

N Engl J Med. 2017 Jan 12;376(2):188-189. doi: 10.1056/NEJMc1604205.

DOI:10.1056/NEJMc1604205

PMID:28076705

Abstract

摘要

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Non-invasive chromosome test raises new questions in prenatal diagnosis about the significance of ultrasound and questions about new screening strategies.无创染色体检测在产前诊断中引发了关于超声意义的新问题以及新筛查策略的问题。

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Sequencing-based tests to determine fetal down syndrome (trisomy 21) from maternal plasma DNA.基于测序的检测方法，用于从孕妇血浆DNA中确定胎儿唐氏综合征（21三体）。

Technol Eval Cent Assess Program Exec Summ. 2013 Apr;27(10):1-6.

Microarray-based cell-free DNA analysis improves noninvasive prenatal testing.基于微阵列的游离DNA分析改善了无创产前检测。

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[Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].[母体血浆中游离胎儿DNA检测在染色体异常产前诊断中的价值]

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Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years.仅超声检查是否足以进行 18 三体综合征的产前筛查？10 年间 69 例单中心经验。

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Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome.确定基因组畸变的起源可提高无创产前检测对22q11.2缺失综合征的阳性预测值。

Sci Rep. 2025 Jul 9;15(1):24755. doi: 10.1038/s41598-025-10446-8.

A unique Levey-Jennings control chart used for internal quality control in human papillomavirus detection.一种用于人乳头瘤病毒检测的内部质量控制的独特 Levey-Jennings 控制图。

Virol J. 2022 Jul 28;19(1):125. doi: 10.1186/s12985-022-01861-8.

A novel use for Levey-Jennings charts in prenatal molecular diagnosis.莱维-詹宁斯图表在产前分子诊断中的新用途。

BMC Med Genomics. 2020 Jul 31;13(1):109. doi: 10.1186/s12920-020-00758-1.

Prenatal cell-free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory.对平均风险或高风险孕妇进行胎儿非整倍体的产前游离DNA筛查：来自美国一家大型临床实验室的结果。

Mol Genet Genomic Med. 2019 Mar;7(3):e545. doi: 10.1002/mgg3.545. Epub 2019 Jan 31.

Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens.在 87000 次无创产前筛查中，基于母体拷贝数变异最小化假阳性和解释新的微缺失的策略。

BMC Med Genomics. 2018 Oct 19;11(1):90. doi: 10.1186/s12920-018-0410-6.

Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry.政策简报：提高新生儿基因筛查覆盖率，纳入推荐统一筛查项目和新生儿筛查登记系统。

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