Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings
Abstract
:1. Introduction
2. Materials and Methods
2.1. Clinical Samples
2.2. Blood Draw and Isolation
2.3. Library Construction and Sequencing
2.4. Mapping and CNV Analysis
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Conflicts of Interest
References
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N = 34 | |
---|---|
Maternal age (median) | 31 (18–45) |
>35 | 27 (79.41%) |
35–41 | 7 (20.58%) |
Gestational age in weeks (median) | 17 (12–24) |
First trimester | 3 (8.8%) |
Second trimester | 31 (91.17%) |
Weight (kg) | 68 (51–87) |
According to CNV Size | Sensitivity (%) |
---|---|
Overall | 90.62 |
< 3 Mb | 78.57 |
≥ 3 Mb | 100 |
According to fetal fraction | |
< 10% | 57.14 |
≥ 10% | 100 |
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Hyblova, M.; Harsanyova, M.; Nikulenkov-Grochova, D.; Kadlecova, J.; Kucharik, M.; Budis, J.; Minarik, G. Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings. Diagnostics 2020, 10, 569. https://doi.org/10.3390/diagnostics10080569
Hyblova M, Harsanyova M, Nikulenkov-Grochova D, Kadlecova J, Kucharik M, Budis J, Minarik G. Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings. Diagnostics. 2020; 10(8):569. https://doi.org/10.3390/diagnostics10080569
Chicago/Turabian StyleHyblova, Michaela, Maria Harsanyova, Diana Nikulenkov-Grochova, Jitka Kadlecova, Marcel Kucharik, Jaroslav Budis, and Gabriel Minarik. 2020. "Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings" Diagnostics 10, no. 8: 569. https://doi.org/10.3390/diagnostics10080569