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Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

机译：基于细胞的非侵入性产前试验（CBNIPT）检测致病拷贝数变化

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摘要

In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.

机译：在两种情况下，基于细胞的非侵入性产前试验（CBNIPT）在胎儿基因组中检测到致病拷贝数变异（CNV）。 CBNIPT可能是用于检测较小CNV的改进的非侵入性替代方案。

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期刊名称 Clinical Case Reports
作者
Lotte Hatt; Ripudaman Singh; Rikke Christensen; Katarina Ravn; Inga B Christensen; Line Dahl Jeppesen; Bolette Hestbek Nicolaisen; Mathias Kølvraa; Palle Schelde; Lotte Andreassen; Richard Farlie; Niels Uldbjerg; Ida Vogel;
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作者单位

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年(卷),期 2020(8),12
年度 2020
页码 2561–2567
总页数 7
原文格式 PDF
正文语种
中图分类
关键词
3p deletion; 3p26 deletion; cell‐based noninvasive prenatal testing; copy number variation; Noninvasive prenatal testing; Prader‐Willi syndrome;

机译：3P删除;3P26缺失;基于细胞的非侵入性产前试验;拷贝数变异;非侵入性产前试验;PRADER-WILLI综合症;

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专利

1. Contribution of maternal copy number variations to false-positive fetal trisomies detected by noninvasive prenatal testing [J] . Zhou Xiya, Sui Lili, Xu Yalan, Prenatal Diagnosis . 2017,第4期

机译：母体拷贝数变异对非侵入性产前检测检测的假阳性胎儿三元体的贡献
2. Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing [J] . Wang Shaowei, Huang Shuai, Ma Linlin, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2015,第Null期

机译：母体X染色体拷贝数变异与通过无创产前检测发现的胎儿性别染色体非整倍体不一致
3. Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test [J] . Kim Seung‐Chul, Cha Dong‐Hyun, Jeong Hae‐Ryun, The journal of obstetrics and gynaecology research . 2019,第9期

机译：临床显着的母体X染色体拷贝数因非侵入性产前检测检测
4. Noninvasive Cell-Free DNA-Based Detection of Copy Number Variations in Breast and Ovarian Cancer Samples Using Single Nucleotide Polymorphism-Targeted Massively Multiplexed PCR [C] . Zachary Demko, Bernhard G. Zimmermann, Eser Kirkizlar, International Molecular Medicine Tri-Conference. . 2015

机译：使用单核苷酸多态性靶向大规模多重PCR的非侵入性细胞基于乳腺癌和卵巢癌样品的拷贝数变异的检测
5. Functional genetic analysis of pathogenic chromosomal copy number variation in Down syndrome and Proteus syndrome. [D] . Duffy, Kelly J. 2007

机译：唐氏综合征和变形杆菌综合征的致病性染色体拷贝数变异的功能遗传分析。
6. Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18516 cases [O] . Yunsheng Ge, Jia Li, Jianlong Zhuang, 2021

机译：扩展的胎儿非血糖测试和拷贝数变异和祖先诊断的父母意愿在18516例的队列中
7. Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations [O] . Lotte Hatt, Ripudaman Singh, Rikke Christensen, 2020

机译：基于细胞的非侵入性产前试验（CBNIPT）检测致病拷贝数变化

Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

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