5 Result(s)
within
Gene Expression
Human Genetics
Microarrays
Meiying Cai
Article
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Article
Open AccessEvaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
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 an...
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Article
Open AccessEvaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios
Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pr...
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Article
Open AccessPrenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations a...
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Article
Open AccessGenetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultr...
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Article
Open AccessPrenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication...
