Noninvasive prenatal screening with conventional sequencing depth to screen fetal copy number variants: A retrospective study of 19 144 pregnant women

Z Wang, X Tang, S Yang, Y Zhao, T Yin… - Journal of Obstetrics …, 2023 - Wiley Online Library
Noninvasive detection of fetal common aneuploidies and CNVs at a conventional sequencing
… to detect subchromosomal abnormalities by semiconductor sequencing platform. They …

[HTML][HTML] Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants

RB Lefkowitz, JA Tynan, T Liu, Y Wu… - American journal of …, 2016 - Elsevier
… We present results of a large blinded clinical study of >1200 samples including >100
samples with common aneuploidies detectable by traditional NIPT and >30 samples affected by …

[PDF][PDF] Non-Invasive Prenatal Testing (NIPT) by DNA Sequencing Method

S Thapa - EC Gynaecology, 2024 - ecronicon.net
… accurate screening for fetal chromosomal aneuploidies in the … NIPT workflow for cell-free
fetal DNA (cffDNA) sequencing … Targeted ion semiconductor sequencing can perform NIPT

Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing

J Shi, R Zhang, J Li, R Zhang - Critical Reviews in Clinical …, 2019 - Taylor & Francis
… This review summarizes the principles, methods, advantages, and limitations of noninvasive
prenatal testing for the detection of aneuploidy, CNVs and single-gene disorders. Before …

Semiconductor sequencing for preimplantation genetic testing for aneuploidy

B Gui, Y Zhang, B Liang, YKY Kwok, WT Lui… - JoVE (Journal of …, 2019 - jove.com
… low-cost semiconductor sequencing-based NGS method for screening of aneuploidy in
embryos. … , followed by construction of sequencing library, and subsequent sequencing on the …

[HTML][HTML] Single-molecule sequencing: A new approach for preimplantation testing and noninvasive prenatal diagnosis confirmation of fetal genotype

S Rechitsky, A Kuliev, G San Ramon… - … of Molecular Diagnostics, 2020 - Elsevier
… for aneuploidy testing and structural rearrangement testing, … often reluctant to undergo
prenatal diagnosis and subject the … Noninvasive prenatal diagnosis (NIPD) to exclude the …

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

IGMA Moreno-Izquierdo, S Mayo… - BioMed Research …, 2018 - go.gale.com
… In this study two different read mappers are compared to determine which one works better
in noninvasive prenatal detection of common aneuploidies using semiconductor sequencing

Clinical application of noninvasive prenatal testing for sex chromosome aneuploidies in central China

G Zhao, P Dai, C Wang, L Liu, X Zhao, X Kong - Frontiers in Medicine, 2022 - frontiersin.org
aneuploidies (SCAs) make prenatal screening of SCAs … noninvasive prenatal testing (NIPT)
for screening SCAs. This study was performed to evaluate the clinical performance of NIPT

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases

Y Lu, N Zuo, M Ning, Y Xie, W Liu, S Ning, Y Liang… - Scientific Reports, 2024 - nature.com
… The application of NIPT in the clinical detection of fetal aneuploidy became possible due to
… or missed detection. Therefore, although noninvasive prenatal screening is popular among …

[HTML][HTML] Non-invasive prenatal testing for the diagnosis of congenital abnormalities: insights from a large multicenter study in southern China

M Cai, N Lin, X Chen, Y Li, M Lin, X Fu… - Brazilian Journal of …, 2023 - SciELO Brasil
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.
Proc Natl Acad Sci USA 2014; 111: 7415-7420, doi: 10.1073/pnas.1321997111. …