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Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
BackgroundChromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD)....
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
BackgroundWith the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome...
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Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
Fetal hyperechogenic kidneys (HEK) is etiologically a heterogeneous disorder. The aim of this study was to identify the genetic causes of HEK using...
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Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios
BackgroundPolyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly...
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Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency
ObjectiveTo evaluate if the NT value of 2.5 mm ≤ NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased NT and...
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Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis
BackgroundAneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies...
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Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
BackgroundThere are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal...
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Identification of a novel isolated 4q35.2 microdeletion in a Chinese pediatric patient using chromosomal microarray analysis: a case report and literature review
BackgroundIsolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers...
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Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort
BackgroundNeurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy...
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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray...
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Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA),...
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Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
BackgroundOptical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex...
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Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Chromosomal microarray technologies, including array comparative genomic hybridization and single-nucleotide polymorphism array, are widely applied...
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Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
BackgroundThe genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and...
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Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses
BackgroundFew co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big...
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Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs
ObjectiveTo investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT).
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Mosaic duplication of 8q24.1q24.3 detected by chromosomal microarray but not karyotyping in two unrelated fetuses with cardiac defects
BackgroundDiscordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance...
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Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
BackgroundThe potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal...
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Identification of chromosomal abnormalities in miscarriages by CNV-Seq
ObjectiveThe primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing...
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Cancer Sample Analysis Utilizing Single-Nucleotide Polymorphism Array and Array Comparative Genomic Hybridization
Chromosomal microarray, including single-nucleotide polymorphism (SNP) array and array comparative genomic hybridization (aCGH), enables the...
