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This study evaluates a customized whole-genome sequencing-based non-invasive prenatal screening (NIPS) approach that does not impose a fetal fraction threshold, achieving a low test-failure rate of 0.1%. The results indicate comparable sensitivity and specificity for both high and low fetal fraction samples, with inferred sensitivities for trisomy 21, 18, and 13 being 99.7%, 96.8%, and 94.3%, respectively. The findings suggest that eliminating the fetal fraction threshold can reduce patient anxiety and stre
- Author
- vladimirazbanic
- Language
- EN