Performance of the neoBona test: a new paired‐end massively parallel shotgun sequencing approach for cell‐free DNA‐based aneuploidy screening

@article{Cirigliano2017PerformanceOT,
  title={Performance of the neoBona test: a new paired‐end massively parallel shotgun sequencing approach for cell‐free DNA‐based aneuploidy screening},
  author={V Cirigliano and Elena Mill{\'a}n Ord{\'o}{\~n}ez and Laura Rueda and Argyro Syngelaki and Kypros H. Nicolaides},
  journal={Ultrasound in Obstetrics \& Gynecology},
  year={2017},
  volume={49},
  pages={460 - 464}
}
OBJECTIVE To assess the performance of screening for fetal trisomies 21, 18 and 13 by cell-free (cf) DNA analysis of maternal blood using a new method based on paired-end massively parallel shotgun sequencing (MPSS. [...] Key MethodThis was a blinded study of plasma samples (1mL) obtained from 1000 women undergoing screening for fetal trisomies 21, 18 and 13 at 11-13 weeks' gestation.Expand
Cell‐free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy
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  • Medicine
  • Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 2018
To evaluate in twin pregnancy the utility of non‐invasive prenatal testing using circulating cell‐free fetal DNA (cfDNA) in screening for the three main autosomal fetal trisomies.
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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. Expand
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The aim of this thesis was to find and ‘calibrate’ computational methodology for estimating the proportion of cell-free fetal DNA (cffDNA) in pregnant women’s blood sample. This work was done as partExpand
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TLDR
Both methods of cfDNA testing showed low no-result rates and a comparable performance in detecting trisomy 21; yet GW-MPS had a slightly lower no- result rate than the DANSR method. Expand
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This is the first head-to-head comparison of NIPT aneuploidy detection tools for the low-coverage whole-genome sequencing approach and determined that all compared computational NipT tools were affected by lower sequencing depth, resulting in systematically increasing the proportions of false-negative trisomy results as the sequencing depth decreased. Expand
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The nongenetic information that can be gleaned from analyses of cell-free DNA, which offers additional promise for the applications of liquid biopsies, are reviewed. Expand
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TLDR
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TLDR
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