NIPT Technique Based on the Use of Long Chimeric DNA Reads
| Autor: | V V Ilinsky, Sergey Evfratov, Gennady V. Khvorykh, Vera Belova, Denis V. Rebrikov, Alexander Rakitko, Daria Plakhina, Dmitriy Korostin, Kirill Tsukanov, Alexander Konoplyannikov |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
0301 basic medicine Trisomy 13 Syndrome lcsh:QH426-470 Chromosomes Human Pair 21 Aneuploidy long chimeric reads Computational biology Biology chimeric DNA Article 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Pregnancy fetal fraction Prenatal Diagnosis Genetics medicine Humans cfDNA Genetics (clinical) 030219 obstetrics & reproductive medicine Chromosomes Human Pair 13 Chimera medicine.disease Predictive value Extracellular dna Clinical Practice First trimester lcsh:Genetics 030104 developmental biology chemistry NGS Control set Female short DNA fragments Chromosomes Human Pair 18 Cell-Free Nucleic Acids Trisomy 18 Syndrome DNA NIPT |
| Zdroj: | Genes Volume 11 Issue 6 Genes, Vol 11, Iss 590, p 590 (2020) |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes11060590 |
| Popis: | Non-invasive prenatal testing (NIPT) for aneuploidy on Chromosomes 21 (T21), 18 (T18) and 13 (T13) is actively used in clinical practice around the world. One of the limitations of the wider implementation of this test is the high cost of the analysis itself, as high-throughput sequencing is still relatively expensive. At the same time, there is an increasing trend in the length of reads yielded by sequencers. Since extracellular DNA is short, in the order of 140&ndash 160 bp, it is not possible to effectively use long reads. The authors used high-performance sequencing of cell-free DNA (cfDNA) libraries that went through additional stages of enzymatic fragmentation and random ligation of the resulting products to create long chimeric reads. The authors used a controlled set of samples to analyze a set of cfDNA samples from pregnant women with a high risk of fetus aneuploidy according to the results of the first trimester screening and confirmed by invasive karyotyping of the fetus using laboratory and analytical approaches developed by the authors. They evaluated the sensitivity, specificity, PPV (positive predictive value), and NPV (negative predictive value) of the results. The authors developed a technique for constructing long chimeric reads from short cfDNA fragments and validated the test using a control set of extracellular DNA samples obtained from pregnant women. The obtained sensitivity and specificity parameters of the NIPT developed by the authors corresponded to the approaches proposed earlier (99.93% and 99.14% for T21 100% and 98.34% for T18 100% and 99.17% for T13, respectively). |
| Databáze: | OpenAIRE |
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