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- W2896673868 abstract "To assess an incorporation of cell-free DNA (cfDNA) test into routine prenatal screening for fetal aneuploidies. Our in-house cfDNA test was integrated in a contingent way as a part of first-trimester combined test on a non-commercial basis. This was a prospective study in which cfDNA analysis was performed in pregnant women with the risk for trisomies from first-trimester combined test between 1/100 and 1/500. Moreover, samples from pregnancies with trisomies confirmed by karyotyping were processed in order to further assess cfDNA test performance. For each sample, cfDNA was isolated from maternal plasma and the whole-genome sequencing using next-generation semiconductor sequencing was performed. The results were assessed using MoM-based approach with chromosomal fingerprint and exponentially weighted moving average charts (EWMA), which enables to look at the distribution of reads alongside the relevant chromosome. Cut-off ≥ 15% of EWMA curve above upper limit was considered a high risk for trisomy. In case of positive cfDNA test, amniocentesis was performed to confirm the diagnosis. A total of 4404 prenatal samples was processed since the start in January 2015. 4182 samples had test results evaluable and 222 samples (5.0 %) were re-sampled and re-processed. Out of 119 trisomic cases there was one false negative result for Trisomy 21 and one for Trisomy 18. Seven samples were false positives for Trisomy 13, ten samples for Trisomy 18 and 31 samples for Trisomy 21. The cfDNA test had a detection rate of 100 % for Trisomy 13 (n=9), 95.5 % for Trisomy 18 (n=22) and 98.9 % for Trisomy 21 (n=88). The false positive rates were 0.2 %, 0.2 % and 0.8 % for Trisomy 13, 18 and 21, respectively. The overall detection rate for all trisomies was 98.3 % and the overall false positivity was 1.2 %. We presented that cfDNA test can be successfully incorporated into fetal aneuploidy screening on a non-commercial basis. Our cfDNA test showed high sensitivity and low false positivity." @default.
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- W2896673868 date "2018-10-01" @default.
- W2896673868 modified "2023-10-17" @default.
- W2896673868 title "OC02.04: Non-commercial cell-free DNA testing in routine clinical aneuploidy screening: a three-year experience" @default.
- W2896673868 doi "https://doi.org/10.1002/uog.19214" @default.
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