ArticleIranian journal of public health2024
Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis.
Article in Iranian journal of public health, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed.
- Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies.BMC pregnancy and childbirth · 2026Article
- False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory.Journal of clinical laboratory analysis · 2026Article
- Inheritance patterns and heterosis of key floral traits in interspecific hybrids ofFrontiers in plant science · 2026Article
- Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis.Frontiers in genetics · 2025Article
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5 authors.
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Abstract
Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications. Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and Children's Health Care Hospital, who underwent standard G-banded karyotype analysis and CMA, were enrolled from 2018-2022. G-banded karyotype analysis and CMA were undergone simultaneously. All fetuses with genetic variants were enrolled for further analyzing. The frequency and differences of chromosomal abnormalities of the two methods were compared in different prenatal diagnosis indications groups. Results: CMA improved 4.09% (123/3007) of genetic changes compared karyotype analysis. CMA is on par with karyotyping for detection of aneuploidies and gross unbalanced rearrangements. Serological screening and ultrasound abnormalities were the main indications of prenatal diagnosis. The detection rate of chromosomal abnormalities was highest in non-invasive prenatal testing (NIPT) abnormal group. In the ultrasound abnormality group, the detection rate of genetic variants in nuchal translucency (NT) increased group was higher than other subgroups and there was statistically significant difference in the detection rate of pCNVs. CMA can detect 5.57% (40/718) more genetic abnormalities in ultrasound abnormality group on the normal karyotype. CMA improved 0.67% (20/3007) of genetic changes with clinically significant compared karyotype, brought 3.42% (103/3007) of variants with uncertain significance (VOUS). Conclusion: CMA identified additional, clinically significant genetic variants on the basis of normal karyotype analysis, brought a proportion of unclear significant variants. All the pregnant women accepted amniocentesis should be informed about their characteristics of karyotype analysis and CMA by genetic counselors.
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