Background: Noninvasive prenatal genetic testing (NIPT) has been adopted as the first choice for aneuploidy screening. The purposes of this study were to investigate the accuracy of Vanadis® NIPT (hereafter CRITO-NIPT) in order to gain a deeper insight into the reasons for discrepancies, as well as to discuss the role of fetal ultrasound. Methods: Between 2019 and 2020, CRITO-NIPT was performed in 1218 cases of patients who underwent CVS or amniocentesis after a detailed fetal ultrasound exam and genetic counseling. The CRITO-NIPT results were compared with the genetic results. In cases of test discrepancies, the placentae were collected for detailed genetic research, and the pre-procedure fetal ultrasound findings were referred to. Results: The positive predictive value of T21, T18, and T13 was 93.55%, 88.46%, and 100%, respectively. In 90% of the of false positive (FP) cases, the placentae were examined. In 75% of the CRITO FP-T21 cases, placental mosaicism, or a demised twin’s T21, were confirmed. There were complicated mosaic cases, including tetrasomy 21/trisomy7 and monosomy 21/trisomy21 cases. In one of three no-call cases, an intermediate deletion of chromosome 13 was detected. Conclusions: The CRITO study investigated the mechanism of false positives, and the detailed mechanisms in mosaic and no-call cases. There have hitherto been no reports that have provided insight by partitioning the placenta to compare the NIPT and invasive test results, nor that have provided detailed ultrasound findings in the cases of discordant results, revealing the demonstrated importance of, and necessity for, detailed ultrasonography. This article describes the potential of rolling-circle replication as a powerful biosensing platform, as well as the importance of examining the fetus in detail with ultrasound. However, we should remember that the potential applications raise ethical and social concerns that go beyond aneuploidy and its methodology.
Ionic liquids (ILs) are non-volatile and highly stable solvents, which consist of organic/inorganic cations and anions. ILs are attractive since they can be utilized as gas-separating materials. Using a conductor-like screening model for realistic solvation (COSMO-RS) method, in this study, Henry's law constants of 15 gases (HCN,
The aim of the present study was to investigate the association among lunar cycle, menstrual cycle onset, and subjective sleep quality. Menstrual cycle onset data from the six most recent menstrual cycles were obtained for 529 women (aged 25–39 years) using the smartphone app Luna Luna. We also collected questionnaire survey data on sleep quality from each participant. Overall, there was no association between the onset of menstrual cycle and lunar phase. Interestingly, the proportion of good sleepers with menstrual cycle beginning during the light period was significantly higher than that during the dark period, while the proportion of poor sleepers with menstrual cycle beginning during the dark period was significantly higher than that during the light period. When participants were categorized by the combination of lunar phases (light, dark, neutral periods) in the two most recent menstrual cycle onsets, the “both dark period” group and the “other (light and dark) period” group showed the lowest proportion of good sleepers. Menstrual cycle onset in the dark period was associated with a deterioration in subsequent subjective sleep quality, which was more apparent with consecutive onsets in the dark period or at a rapidly changing lunar phase.
Here, we report a draft genome sequence of Saccharomyces cerevisiae strain Kagoshima no. 2, which is used for brewing shōchū, a traditional distilled spirit in Japan. The genome data will facilitate an understanding of the evolutional traits and genetic background related to the characteristic features of strain Kagoshima no. 2.
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