Cargando…

Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

PURPOSE: The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospective cases. METHODS: A total of 39,002 pregnant women who received NIPT by next-g...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Chaohong, Tang, Junxiang, Tong, Keting, Huang, Daoqi, Tu, Huayu, Li, Qingnan, Zhu, Jiansheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8666043/ https://www.ncbi.nlm.nih.gov/pubmed/34895207 http://dx.doi.org/10.1186/s12920-021-01131-6

Ejemplares similares

Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency
por: Wang, Chaohong, et al.
Publicado: (2022)

Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
por: Lu, Xinran, et al.
Publicado: (2021)

Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies
por: Cheng, Yuan, et al.
Publicado: (2021)

Expanding the Scope of Non-invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations
por: Chen, Songchang, et al.
Publicado: (2021)

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases
por: Pang, Yu, et al.
Publicado: (2021)

Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
por: Wu, Guangping, et al.
Publicado: (2019)

Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
por: Wen, Xiaohui, et al.
Publicado: (2022)

Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations
por: Wang, Jing, et al.
Publicado: (2021)

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
por: Ge, Yunsheng, et al.
Publicado: (2021)

Variation of Female Pronucleus Reveals Oocyte or Embryo Chromosomal Copy Number Variations
por: Yang, Jingwei, et al.
Publicado: (2022)

Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review
por: Zaninović, Luca, et al.
Publicado: (2022)

Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation
por: Zhu, Shaohua, et al.
Publicado: (2023)

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility
por: Signore, Fabrizio, et al.
Publicado: (2019)

Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study
por: Cai, Meiying, et al.
Publicado: (2023)

Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing
por: Yu, Dongyi, et al.
Publicado: (2019)

Expanding the genetic basis of copy number variation in familial breast cancer
por: Masson, Amy L, et al.
Publicado: (2014)

An initial map of chromosomal segmental copy number variations in the chicken
por: Wang, Xiaofei, et al.
Publicado: (2010)

Chromosome Copy Number Variation and Control in the Ciliate Chilodonella uncinata
por: Spring, Kevin J., et al.
Publicado: (2013)

Copy number variation in the human Y chromosome in the UK population
por: Wei, Wei, et al.
Publicado: (2015)

Industrial Relevance of Chromosomal Copy Number Variation in Saccharomyces Yeasts
por: Gorter de Vries, Arthur R., et al.
Publicado: (2017)

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction
por: Meng, Xinyue, et al.
Publicado: (2022)

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
por: Zou, Yongyi, et al.
Publicado: (2023)

Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype
por: de Smith, Adam J., et al.
Publicado: (2010)

Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing
por: Lan, Liubing, et al.
Publicado: (2021)

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis
por: Zhang, Jinman, et al.
Publicado: (2021)

Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis
por: Zhang, Suhua, et al.
Publicado: (2022)

Erratum to: Copy number variation in the human Y chromosome in the UK population
por: Wei, Wei, et al.
Publicado: (2015)

Semiconductor Sequencing Analysis of Chromosomal Copy Number Variations in Spontaneous Miscarriage
por: Wang, Ming-zhu, et al.
Publicado: (2017)

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
por: Cai, Meiying, et al.
Publicado: (2018)

Role of chromosome 1q copy number variation in hepatocellular carcinoma
por: Jacobs, Nathan R, et al.
Publicado: (2021)

Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?
por: Hyblova, Michaela, et al.
Publicado: (2022)

Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis
por: Tang, Xinxin, et al.
Publicado: (2022)

Integrated analysis of chromosome copy number variation and gene expression in cervical carcinoma
por: Yan, Deng, et al.
Publicado: (2017)

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
por: Cai, Meiying, et al.
Publicado: (2021)

Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal Testing
por: Chen, Liheng, et al.
Publicado: (2022)

Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
por: Zhang, Jingjing, et al.
Publicado: (2015)

Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations
por: Hatt, Lotte, et al.
Publicado: (2020)

Copy number variations and cancer
por: Shlien, Adam, et al.
Publicado: (2009)

Copy number variations and stroke
por: Colaianni, Valeria, et al.
Publicado: (2016)

Copy Number Variations and Schizophrenia
por: Szecówka, Kamila, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_k2q15oiaf6brd7j5li272ohvfc