Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform

Y Tian, L Zhang, W Tian, J Gao, L Jia, S Cui - Molecular Cytogenetics, 2018 - Springer
Background Non-invasive prenatal testing (NIPT) is frequently being used to screen for
trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when …

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21

J Yang, J Wu, D Wang, Y Hou, F Guo, Q Zhang… - Journal of Assisted …, 2023 - Springer
Objective This study aims to evaluate the correlation combined fetal fraction and Z-score for
fetal trisomies 13, 18, and 21 of NIPT by the semiconductor sequencing platform and further …

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 …

Evaluation of the Z‐score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center

W Junhui, L Ru, Y Qiuxia, W Dan, S Xiuhong… - Prenatal …, 2021 - Wiley Online Library
Objective To assess the correlation between Z‐scores of positive noninvasive prenatal
testing (NIPT) results and the positive predictive value (PPV) of NIPT. Methods Pregnancies …

Comparison of the performance of NIPT and NIPT‐plus for fetal chromosomal aneuploidy and high Z‐score increases the positive predictive value

S Liu, Y Xu, Q Chang, B Jia, F Li - International Journal of …, 2024 - Wiley Online Library
Objective To evaluate non‐invasive prenatal testing (NIPT) and expanded non‐invasive
prenatal testing (NIPT‐plus) for detecting aneuploidies at different sequencing depths and …

Result of Prospective Validation of the Trisomy Test® for the Detection of Chromosomal Trisomies

M Sekelska, A Izsakova, K Kubosova, P Tilandyova… - Diagnostics, 2019 - mdpi.com
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests
used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole …

Utilization of benchtop next generation sequencing platforms ion torrent PGM and MiSeq in noninvasive prenatal testing for chromosome 21 trisomy and testing of …

G Minarik, G Repiska, M Hyblova, E Nagyova, K Soltys… - PloS one, 2015 - journals.plos.org
Objectives The aims of this study were to test the utility of benchtop NGS platforms for NIPT
for trisomy 21 using previously published z score calculation methods and to optimize the …

Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting–factors of importance for correct interpretation of results

TS Hartwig, L Ambye, L Werge, MK Weiergang… - European Journal of …, 2018 - Elsevier
Objectives We have established an open source platform for non-invasive prenatal testing
(NIPT) based on massively parallel whole-genome sequencing in a public setting. The …

Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

Y Xue, G Zhao, H Li, Q Zhang, J Lu, B Yu… - Molecular cytogenetics, 2019 - Springer
Background Non-invasive prenatal testing (NIPT) has been widely used to detect common
fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and …

Non-invasive prenatal test findings in 41,819 pregnant women: results from a clinical laboratory in southern China

S Liu, Q Chang, F Yang, Y Xu, B Jia, R Wu, L Li… - Archives of Gynecology …, 2023 - Springer
Background This paper evaluated the clinical utility of massively parallel sequencing-based
non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21), T18, T13, sex …