High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
Open accessAbstract
Objective: The objective of this study was to determine for the first time the reliability and the diagnostic power of high‐resolution microarray testing in routine prenatal diagnostics. Methods: We applied high‐resolution chromosomal microarray testing in 464 cytogenetically normal prenatal samples with any indication for invasive testing. Results: High‐resolution testing revealed a diagnostic yield of 6.9% and 1.6% in cases of fetal ultrasound anomalies and cases of advanced maternal age (AMA), respectively, which is similar to previous studies using low‐resolution microarrays. In three (0.6%) additional cases with an indication of AMA, an aberration in susceptibility risk loci was detected. Moreover, one case (0.2%) showed an X‐linked aberration in a female fetus, a finding relevant for future family planning. We found the rate of cases, in which the parents had to be tested for interpretation of unreported copy number variants (3.7%), and the rate of remaining variants of unknown significance (0.4%) acceptably low. Of note, these findings did not cause termination of pregnancy after expert genetic counseling. The 0.4% rate of confined placental mosaicism was similar to that observed by conventional karyotyping and notably involved a case of placental microdeletion. Conclusion: High‐resolution prenatal microarray testing is a reliable technique that increases diagnostic yield by at least 17.3% when compared with conventional karyotyping, without an increase in the frequency of variants of uncertain significance. © 2014 John Wiley & Sons, Ltd.
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In 3.7% of women undergoing cfDNA the results were inconclusive, and therefore confirmation of the findings with invasive testing was necessary.
“Similarly, according to a study, in 3.7% of women undergoing cfDNA the results were inconclusive, and therefore confirmation of the findings with invasive testing was necessary [87].”
From First-Trimester Ultrasound: A Comparative Review of Guidelines (2026) · cites this paper as [87]
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Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders
Tropeano, M., Ahn, J. W., Dobson, R. J. B., Breen, G., Rucker, J., Dixit, A., Pal, D. K., McGuffin, P., Farmer, A., White, P. S., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061365 · Cited by 154 · see citing works
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First-Trimester Ultrasound: A Comparative Review of Guidelines
Boureka, E., Tsakiridis, I., Michos, G., Liberis, A., Giouleka, S., Mamopoulos, A., Kalogiannidis, I., & Dagklis, T. (2026) · Diagnostics · doi:10.3390/diagnostics16111695
- Authors
- Oneda, B., Baldinger, R., Reissmann, R., Reshetnikova, I., Krejci, P., Masood, R., Ochsenbein‐Kölble, N., Bartholdi, D., Steindl, K., Morotti, D., Faranda, M., Baumer, A., Asadollahi, R., Joset, P., Niedrist, D., Breymann, C., Hebisch, G., Hüsler, M., Mueller, R., Prentl, E., Wisser, J., Zimmermann, R., & Rauch, A.
- Affiliations
- University of Zurich (CH)
- University Hospital Zurich (CH)
- Swiss Perinatal Institute Zurich Switzerland
- Spital Thurgau (Switzerland) (CH)
- Division of Gynecology and Obstetrics Hospital of Männedorf Männedorf Switzerland
- Kantonsspital Winterthur (CH)
- Corresponding author
- Oneda, Beatrice
- ORCID
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2014-03-21
- Volume
- 34
- Issue
- 6
- Pages
- 525-533
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W2123894796
- Cited by
- 53
- References
- 1
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 6 · 2020: 4 · 2019: 7 · 2018: 3 · 2017: 8 · 2016: 8 · 2015: 5 · 2014: 1
- FWCI
- 6.90
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Prenatal Diagnosis (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- diagnostic yield, copy number variation, variants of uncertain significance, advanced maternal age, fetal ultrasound anomalies, confined placental mosaicism, karyotyping comparison, genetic counseling
- MeSH terms
- Adult, Cells, Cultured, Chromosome Aberrations, Chromosomes, Human, Female, Humans, Karyotyping, Maternal Age, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, Reproducibility of Results, Cohort Studies, Microarray Analysis
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