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

@inproceedings{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 Libardo Rueda and A. Syngelaki and Kypros H. Nicolaides},
  booktitle={Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology},
  year={2017}
}
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). METHODS This 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. The study included 50 cases with confirmed fetal trisomy 21, 30 with trisomy 18, 10 with trisomy 13 and 910… CONTINUE READING
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