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The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities
BackgroundChromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing...
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Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone
PurposeThis study aims to evaluate the prevalence of submicroscopic chromosomal abnormalities found on single nucleotide polymorphism array (SNP...
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Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses
A single-center retrospective study of G-band karyoty** and chromosomal microarray analysis (CMA) for the invasive prenatal diagnosis of 6159...
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A cost–benefit analysis for use of large SNP panels and high throughput ty** for forensic investigative genetic genealogy
Next-generation sequencing (NGS), also known as massively sequencing, enables large dense SNP panel analyses which generate the genetic component of...
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Fetal genetic findings by chromosomal microarray analysis and karyoty** for fetal growth restriction without structural malformations at a territory referral center: 10-year experience
BackgroundPrenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or FGR combined with a structural defect. Our...
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Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators
BackgroundKaryotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many...
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A SNP in the 5’ flanking region of the SAA1 gene is associated with serum levels of serum amyloid A and cardiovascular risk factors
BackgroundElevated serum levels of serum amyloid A (SAA) are associated with increased risk of cardiovascular disease. In this study, we examine...
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Pediatric combined hepatocellular-cholangiocarcinoma (cHCC-CC) with neuroendocrine features: distinguishing genetic alterations detected by chromosomal microarray
BackgroundLiver tumors exhibiting hepatocellular, cholangiocarcinoma, and neuroendocrine features are extremely rare, with only five cases reported...
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Identification of a SNP cluster associated with taxane-induced peripheral neuropathy risk in patients being treated for breast cancer using GWAS data derived from a large cooperative group trial
BackgroundChemotherapy-induced peripheral neuropathy (CIPN) is a common toxicity of taxanes for which there is no effective intervention. Genomic...
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Application of chromosome microarray analysis and karyoty** in diagnostic assessment of abnormal Down syndrome screening results
BackgroundDown syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural...
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Prenatal Diagnosis of 8p23 Deletion Syndrome by Single Nucleotide Polymorphism Microarray
8p23 deletion syndrome is characterized by congenital heart disease, diaphragmatic hernia, growth restriction, microcephaly, intellectual disability,...
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High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants
PurposeThis study aimed to evaluate whether a high-throughput high-resolution PGT-A method can detect copy number variants (CNVs) that could have...
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Identification of biomarkers associated with metabolic cardiovascular disease using mRNA-SNP-miRNA regulatory network analysis
BackgroundCVD is the leading cause of death in T2DM patients. However, few biomarkers have been identified to detect and diagnose CVD in the early...
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Identification of the efficacy of parentage testing based on bi-allelic autosomal single nucleotide polymorphism markers in Taiwanese population
Parentage testing is crucial for forensic DNA analysis, using short tandem repeats (STRs). Single nucleotide polymorphisms (SNPs) with high minor...
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Prenatal and postnatal chromosomal microarray analysis in 885 cases of various congenital heart defects
PurposeThis study aimed to evaluate the prevalence of clinically significant (pathogenic and likely pathogenic) variants detected by chromosomal...
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The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnancies
PurposeTo analyze the risk for clinically significant microarray aberrations in pregnancies with polyhydramnios.
MethodsData from all chromosomal...
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Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory
BackgroundA growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of...
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Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array
BackgroundTo assess whether preimplantation genetic testing for aneuploidy with next generation sequencing (NGS) outweighs single nucleotide...
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Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience
BackgroundKaryoty** has been the gold standard for prenatal chromosome analysis. The resolution should be higher by chromosome microarray analysis...
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Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing
Chromosomal microarray and Next-generation sequencing are two widely used genomic tests that have improved the diagnosis of children with a genetic...