Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing

Next-generation sequencing is emerging as a viable alternative to chromosome microarray analysis for the diagnosis of chromosome disease syndromes. One next-generation sequencing methodology, copy number variation sequencing, has been shown to deliver high reliability, accuracy, and reproducibility...

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Veröffentlicht in:	American journal of obstetrics and gynecology 2018-09, Vol.219 (3), p.287.e1-287.e18
Hauptverfasser:	Wang, Jing, Chen, Lin, Zhou, Cong, Wang, Li, Xie, Hanbing, Xiao, Yuanyuan, Zhu, Hongmei, Hu, Ting, Zhang, Zhu, Zhu, Qian, Liu, Zhiying, Liu, Shanlin, Wang, He, Xu, Mengnan, Ren, Zhilin, Yu, Fuli, Cram, David S., Liu, Hongqian
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amniocentesis Aneuploidy China Chromosome Aberrations chromosome anomalies Chromosome Disorders - diagnosis Chromosome Disorders - genetics copy number variation sequencing DNA Copy Number Variations - genetics Down Syndrome - diagnosis Female High-Throughput Nucleotide Sequencing Humans In Situ Hybridization, Fluorescence invasive prenatal diagnosis Karyotyping Microarray Analysis microdeletions microduplications Pregnancy Prenatal Diagnosis Prospective Studies Sequence Analysis, DNA Sex Chromosome Aberrations Trisomy 13 Syndrome - diagnosis Trisomy 18 Syndrome - diagnosis variants of uncertain significance
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