An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study
| Autor: | Hailiang Liu, Fengchang Qiao, Chun-fang Peng, Ping Hu, Ting Wang, Dong-hong Luo, Zhengfeng Xu, Yangyi Chen, Hang Li, Ying Lin, Dong Liang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Fetal dna False negative Test failure cffDNA enrichment lcsh:Medicine General Biochemistry Genetics and Molecular Biology 03 medical and health sciences 0302 clinical medicine Fetus Pregnancy Prenatal Diagnosis medicine Humans Fraction (mathematics) cffDNA fraction False Negative Reactions Obstetrics business.industry Test quality Research Non invasive lcsh:R General Medicine cfDNA screening NIPS 030104 developmental biology Prenatal screening Cell-free fetal DNA 030220 oncology & carcinogenesis Feasibility Studies Female business Size difference Cell-Free Nucleic Acids |
| Zdroj: | Journal of Translational Medicine Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-9 (2019) |
| ISSN: | 1479-5876 |
| Popis: | Background Noninvasive prenatal screening (NIPS) based on cell-free fetal DNA (cffDNA) has rapidly been applied into clinic. However, the reliability of this method largely depends on the concentration of cffDNA in the maternal plasma. The chance of test failure results or false negative results would increase when cffDNA fraction is low. In this study, we set out to develop a method to enrich the cffDNA for NIPS based on the size difference between cell-free DNA (cfDNA) of fetal origin and maternal origin, and to evaluate whether the new NIPS method can improve the test quality. Methods We utilized 10,000 previous NIPS data to optimize a size-selection strategy for enrichment. Then, we retrospectively performed our new NIPS method with cffDNA enrichment on the 1415 NIPS samples, including 1404 routine cases and 11 false negative cases, and compared the results to the original NIPS results. Results The 10,000 NIPS data revealed the fetal fraction in short cfDNA fragments ( |
| Databáze: | OpenAIRE |
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