Cargando…

Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

BACKGROUND: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs)...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cai, Meiying, Lin, Na, Chen, Xuemei, Fu, Meimei, Guo, Nan, Xu, Liangpu, Huang, Hailong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802188/ https://www.ncbi.nlm.nih.gov/pubmed/33435955 http://dx.doi.org/10.1186/s12920-021-00870-w

Ejemplares similares

Copy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes
por: Cai, Meiying, et al.
Publicado: (2020)

Evaluation of chromosomal abnormalities and copy number variations in late trimester pregnancy using cordocentesis
por: Cai, Meiying, et al.
Publicado: (2020)

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

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
por: Cai, Meiying, et al.
Publicado: (2021)

Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays
por: Wang, Haiwei, et al.
Publicado: (2022)

Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays
por: Xue, Huili, et al.
Publicado: (2021)

Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel
por: Fan, Xiangqun, et al.
Publicado: (2021)

Prenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
por: Cai, Meiying, et al.
Publicado: (2020)

Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
por: Wu, Xiaoqing, et al.
Publicado: (2020)

Copy number variations associated with fetal congenital kidney malformations
por: Cai, Meiying, et al.
Publicado: (2020)

Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays
por: Cai, Meiying, et al.
Publicado: (2019)

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions
por: Wu, Xiaoqing, et al.
Publicado: (2022)

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study
por: Huang, Hailong, et al.
Publicado: (2021)

Corrigendum: Chromosomal abnormalities and pregnancy outcomes for fetuses with gastrointestinal tract obstructions
por: Wu, Xiaoqing, et al.
Publicado: (2022)

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

Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing
por: Wang, Jing, et al.
Publicado: (2018)

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

Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies
por: Cai, Meiying, et al.
Publicado: (2021)

Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
por: Cai, Meiying, et al.
Publicado: (2023)

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities
por: Guo, Nan, et al.
Publicado: (2022)

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings
por: Zhang, Yuanyuan, et al.
Publicado: (2021)

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios
por: Wu, Xiaoqing, et al.
Publicado: (2022)

Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype
por: Su, Linjuan, et al.
Publicado: (2019)

Application of Copy Number Variation Sequencing Technology in 422 Foetuses with Abnormal Ultrasound Soft Markers
por: Wang, Yanan, et al.
Publicado: (2023)

Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities
por: Xie, Xiaorui, et al.
Publicado: (2021)

Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age
por: Wu, Xiaoqing, et al.
Publicado: (2019)

Clinical outcomes of fetuses with chromosome 16 short arm copy number variants
por: Kang, Jessica, et al.
Publicado: (2023)

Novel homozygous nonsense mutation associated with Bardet–Biedl syndrome in fetuses with congenital renal malformation
por: Cai, Meiying, et al.
Publicado: (2022)

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)

16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
por: Cai, Meiying, et al.
Publicado: (2022)

Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening
por: Lan, Liubing, et al.
Publicado: (2020)

SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold
por: Kievskaya, J.K., et al.
Publicado: (2021)

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
por: Guo, Nan, et al.
Publicado: (2023)

Chromosomal microarray analysis for pregnancies with abnormal maternal serum screening who undergo invasive prenatal testing
por: Wu, Xiaoqing, et al.
Publicado: (2021)

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

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities
por: Cai, Meiying, et al.
Publicado: (2021)

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis
por: Xue, Huili, et al.
Publicado: (2020)

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs
por: Schut, Pauline C., et al.
Publicado: (2020)

Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups
por: Castaneda, Caitlin, et al.
Publicado: (2022)

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome
por: Cai, Meiying, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_3nt2hvr1066e3qcnok69vvtk42