| Autor: |
Dale Muzzey, Kevin R. Haas, James D. Goldberg, Rachel A. S. Kjolby, Noah C. Welker, Mark R. Theilmann, Clement Chu, Albert Lee, Helen Y. Wan, Diana Jeon |
| Rok vydání: |
2020 |
| Předmět: |
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| Popis: |
PurposeThe percentage of a maternal cell-free DNA (cfDNA) sample that is fetal-derived (the fetal fraction; FF) is a key driver of the sensitivity and specificity of noninvasive prenatal screening (NIPS). On certain NIPS platforms, >20% of women with high body-mass index (and >5% overall) receive a test failure due to low FF (MethodsA scalable fetal-fraction amplification (FFA) technology was analytically validated on 1,264 samples undergoing whole-genome sequencing (WGS)-based NIPS. All samples were tested with and without FFA.ResultsZero samples had FFConclusionsFFA transforms low-FF samples into high-FF samples. By combining FFA with WGS-based NIPS, a single round of NIPS can provide nearly all women with confident results about the broad range of potential fetal chromosomal abnormalities across the genome. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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