Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort …

LA El Khattabi, S Brun, P Gueguen… - … in Obstetrics & …, 2019 - Wiley Online Library
Objective To validate and evaluate the performance metrics of the high‐throughput
semiconductor sequencing platform, Ion Proton®, in non‐invasive prenatal genetic …

Performance of Semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidies: results from a multicenter prospective cohort …

L Allach El Khattabi, S Brun, P Guéguen, N Chatron… - 2019 - agris.fao.org
< strong> Objectives</strong> To validate and evaluate an integrated protocol for non‐
invasive prenatal genetic screening (NIPS) for common fetal aneuploidies in a clinical …

Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

A Dheedene, T Sante, M De Smet… - Prenatal …, 2016 - Wiley Online Library
Objectives To implement non‐invasive prenatal testing (NIPT) for fetal aneuploidies with
semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first …

Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy

S Kim, HJ Jung, SH Han, SJ Lee, JS Kwon… - BMC medical …, 2016 - Springer
Background Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-
generation sequencing on ion semiconductor platforms has become common. There are …

The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform

YJ Jeon, Y Zhou, Y Li, Q Guo, J Chen, S Quan… - PloS one, 2014 - journals.plos.org
Objective Recent non-invasive prenatal testing (NIPT) technologies are based on next-
generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be …

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study

F Rousseau, S Langlois, JA Johnson, J Gekas… - European Journal of …, 2019 - nature.com
We compared clinical validity of two non-invasive prenatal screening (NIPS) methods for
fetal trisomies 13, 18, 21, and monosomy X. We recruited prospectively 2203 women at high …

Performance of a paired-end sequencing-based noninvasive prenatal screening test in the detection of genome-wide fetal chromosomal anomalies

MD Pertile, N Flowers, D Vavrek, D Andrews… - Clinical …, 2021 - academic.oup.com
Abstract Background Noninvasive prenatal tests (NIPTs) detect fetal chromosomal
anomalies with high clinical sensitivity and specificity. We examined the performance of a …

Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100,000 clinical samples

RM McCullough, EA Almasri, X Guan, JA Geis… - PLoS one, 2014 - journals.plos.org
Objective As the first laboratory to offer massively parallel sequencing-based noninvasive
prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to …

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

C Liao, A Yin, C Peng, F Fu, J Yang… - Proceedings of the …, 2014 - National Acad Sciences
Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has
revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids …

Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

DT Thung, L Beulen, J Hehir-Kwa… - Expert review of …, 2015 - Taylor & Francis
Noninvasive prenatal testing (NIPT) for fetal aneuploidies using cell-free fetal DNA in
maternal plasma has revolutionized the field of prenatal care and methods using massively …