Development of reference materials for noninvasive prenatal aneuploidy testing by massively parallel sequencing: a proof-of-concept study
J Blais, S Giroux, A Caron, V Clément… - The Journal of …, 2019 - academic.oup.com
… Noninvasive prenatal aneuploidy testing (NIPT) represents the first large-scale clinical
application of massively parallel sequencing technology. However, no NIPT reference material (…
application of massively parallel sequencing technology. However, no NIPT reference material (…
[HTML][HTML] Noninvasive prenatal testing-when is it advantageous to apply
T Liehr, A Lauten, U Schneider, E Schleussner… - Biomedicine …, 2017 - karger.com
… common aneuploidy, occurring in 1 in 6,000 to 8,000 live births. The probability of survival
after birth with this aneuploidy is … In Table 1 possible indications for prenatal diagnostics are …
after birth with this aneuploidy is … In Table 1 possible indications for prenatal diagnostics are …
[HTML][HTML] Identification of structural variation from NGS-based non-invasive prenatal testing
… In our previous study, we described non-invasive prenatal test (NIPT) based on analysis of
… This test uses low-coverage massively parallel sequencing of whole-genome for detection of …
… This test uses low-coverage massively parallel sequencing of whole-genome for detection of …
[HTML][HTML] Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities
N Guo, M Cai, M Lin, H Xue, H Huang, L Xu - Molecular Biology Reports, 2022 - Springer
… Early and intermediate serological screening cannot detect sex chromosome abnormalities.
Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening …
Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening …
[HTML][HTML] Analysis of the impact of noninvasive prenatal testing for trisomies 21 and 18 in twin pregnancies undergoing artificial reproductive technology
C Yang, L Hu, S Jiang, F Liang, S Zhang - Medicine, 2022 - journals.lww.com
… [ 18 ] We aim to assess the feasibility and clinical application of NIPS in twin pregnancies,
on the prenatal screening and livebirth prevention of aneuploidy, based on 474 twin …
on the prenatal screening and livebirth prevention of aneuploidy, based on 474 twin …
[HTML][HTML] Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach
… semiconductor sequencing and target capture enrichment combined with specific target
capture sequences (… Our approach enabled the detection of high-risk fetal aneuploidy, mosaic …
capture sequences (… Our approach enabled the detection of high-risk fetal aneuploidy, mosaic …
[HTML][HTML] Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
W Tian, Y Yuan, E Yuan, L Zhang, L Liu, Y Li… - European Journal of …, 2023 - Springer
… sequencing technology, non-invasive prenatal testing (NIPT) … However, in NIPT, some false
positives and false negatives … Sequencing data were analysed using an ion semiconductor …
positives and false negatives … Sequencing data were analysed using an ion semiconductor …
Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy
K Sermon - Expert review of molecular diagnostics, 2017 - Taylor & Francis
… high flight of noninvasive prenatal diagnosis, identifying and analyzing fetal free DNA present
… on to the third generation sequencing, which allows for the sequencing of very long, single …
… on to the third generation sequencing, which allows for the sequencing of very long, single …
Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA
C Chen, J Sun, Y Yang, L Jiang, F Guo, Y Zhu, D Li… - …, 2020 - Taylor & Francis
… haplotype-based noninvasive prenatal diagnosis approach for … analyzed by targeted
sequencing and maternal pathogenic … chromosome aneuploidy is widely used in clinical practice …
sequencing and maternal pathogenic … chromosome aneuploidy is widely used in clinical practice …
[HTML][HTML] The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study
X Yuan, W Yong, L Dai, W Wang… - Annals of Translational …, 2023 - ncbi.nlm.nih.gov
… The development of non-invasive prenatal testing (NIPT) has expanded the detection range
from common aneuploidy to SCA, … Semiconductor sequencing technology was then used for …
from common aneuploidy to SCA, … Semiconductor sequencing technology was then used for …