ArticleEuropean journal of human genetics : EJHG2013
Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
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- Trial
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- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.Scientific reports · 2023Article
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- Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.Prenatal diagnosis · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities.BMC genomics · 2022Article
- Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies.Genetics research · 2022Article
- A Three-Year Prospective Study Assessing the Application of Chromosomal Microarray Analysis in 576 High-Risk Pregnant Women.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.Genes · 2021Article
- Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Detection of copy number variation associated with ventriculomegaly in fetuses using single nucleotide polymorphism arrays.Scientific reports · 2021Article
- Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory.Acta obstetricia et gynecologica Scandinavica · 2020Article
- Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.Journal of clinical laboratory analysis · 2020Article
- Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.Journal of clinical laboratory analysis · 2019Article
- Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.Molecular cytogenetics · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, we aimed to explore the utility of chromosomal microarray analysis (CMA) in groups of pregnancies with a priori low risk for detection of submicroscopic chromosome abnormalities, usually not considered an indication for testing, in order to assess whether CMA improves the detection rate of prenatal chromosomal aberrations. A total of 3000 prenatal samples were processed in parallel using both whole-genome CMA and conventional karyotyping. The indications for prenatal testing included: advanced maternal age, maternal serum screening test abnormality, abnormal ultrasound findings, known abnormal fetal karyotype, parental anxiety, family history of a genetic condition and cell culture failure. The use of CMA resulted in an increased detection rate regardless of the indication for analysis. This was evident in high risk groups (abnormal ultrasound findings and abnormal fetal karyotype), in which the percentage of detection was 5.8% (7/120), and also in low risk groups, such as advanced maternal age (6/1118, 0.5%), and parental anxiety (11/1674, 0.7%). A total of 24 (0.8%) fetal conditions would have remained undiagnosed if only a standard karyotype had been performed. Importantly, 17 (0.6%) of such findings would have otherwise been overlooked if CMA was offered only to high risk pregnancies.The results of this study suggest that more widespread CMA testing of fetuses would result in a higher detection of clinically relevant chromosome abnormalities, even in low risk pregnancies. Our findings provide substantial evidence for the introduction of CMA as a first-line diagnostic test for all pregnant women undergoing invasive prenatal testing, regardless of risk factors.
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