Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology
| Autor: | Anna Gousseva, Suresh Shenoy, Alka Chaubey, Uzay Gormus, Ephrem Chin, Madhuri Hegde, Yong Wee Wong, Fredrik Persson, Bao Ping Choo, Lawrence Prensky, Lee Yin Chan, Liza Oraha |
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| Rok vydání: | 2021 |
| Předmět: |
Microbiology (medical)
Adult Validation study medicine.medical_specialty Trisomy 13 Syndrome QH301-705.5 Genetic counseling Noninvasive Prenatal Testing Aneuploidy Microbiology DNA sequencing cell-free DNA Young Adult Pregnancy noninvasive prenatal screening medicine Humans digital quantification Biology (General) Molecular Biology medicine.diagnostic_test Obstetrics business.industry Non invasive High-Throughput Nucleotide Sequencing General Medicine Middle Aged medicine.disease rolling-circle replication NIPS Cell-free fetal DNA validation study prenatal screening Amniocentesis Female Down Syndrome Trisomy business Cell-Free Nucleic Acids NIPT Trisomy 18 Syndrome |
| Zdroj: | Current Issues in Molecular Biology, Vol 43, Iss 68, Pp 958-964 (2021) Current Issues in Molecular Biology Volume 43 Issue 2 Pages 68-964 |
| ISSN: | 1467-3045 |
| Popis: | Background: Rolling-circle replication (RCR) is a novel technology that has not been applied to cell-free DNA (cfDNA) testing until recently. Given the cost and simplicity advantages of this technology compared to other platforms currently used in cfDNA analysis, an assessment of RCR in clinical laboratories was performed. Here, we present the first validation study from clinical laboratories utilizing RCR technology. Methods: 831 samples from spontaneously pregnant women carrying a singleton fetus, and 25 synthetic samples, were analyzed for the fetal risk of trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13), by three laboratories on three continents. All the screen-positive pregnancies were provided post-test genetic counseling and confirmatory diagnostic invasive testing (e.g., amniocentesis). The screen-negative pregnancies were routinely evaluated at birth for fetal aneuploidies, using newborn examinations, and any suspected aneuploidies would have been offered diagnostic testing or confirmed with karyotyping. Results: The study found rolling-circle replication to be a highly viable technology for the clinical assessment of fetal aneuploidies, with 100% sensitivity for T21 (95% CI: 82.35–100.00%) 100.00% sensitivity for T18 (71.51–100.00%) and 100.00% sensitivity for T13 analyses (66.37–100.00%). The specificities were > 99% for each trisomy (99.7% (99.01–99.97%) for T21 99.5% (98.62–99.85%) for T18 99.7% (99.03–99.97%) for T13), along with a first-pass no-call rate of 0.93%. Conclusions: The study showed that using a rolling-circle replication-based cfDNA system for the evaluation of the common aneuploidies would provide greater accuracy and clinical utility compared to conventional biochemical screening, and it would provide comparable results to other reported cfDNA methodologies. |
| Databáze: | OpenAIRE |
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