Genomics‐based non‐invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women
M Badeau, C Lindsay, J Blais… - Cochrane Database …, 2017 - cochranelibrary.com
Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …
[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
Background Current cell-free DNA assessment of fetal chromosomes does not analyze and
report on all chromosomes. Hence, a significant proportion of fetal chromosomal …
report on all chromosomes. Hence, a significant proportion of fetal chromosomal …
Genome-wide sequencing of cell-free DNA identifies copy-number alterations that can be used for monitoring response to immunotherapy in cancer patients
TJ Jensen, AM Goodman, S Kato, CK Ellison… - Molecular cancer …, 2019 - AACR
Inhibitors of the PD-1/PD-L1/CTLA-4 immune checkpoint pathway have revolutionized
cancer treatment. Indeed, some patients with advanced, refractory malignancies achieve …
cancer treatment. Indeed, some patients with advanced, refractory malignancies achieve …
[HTML][HTML] Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases
M Ehrich, J Tynan, A Mazloom, E Almasri… - Genetics in …, 2017 - Elsevier
Purpose Invasive diagnostic prenatal testing can provide the most comprehensive
information about the genetic status of a fetus. Noninvasive prenatal screening methods …
information about the genetic status of a fetus. Noninvasive prenatal screening methods …
[HTML][HTML] A critical evaluation of validation and clinical experience studies in non-invasive prenatal testing for trisomies 21, 18, and 13 and monosomy X
Z Demko, B Prigmore, P Benn - Journal of Clinical Medicine, 2022 - mdpi.com
Non-invasive prenatal testing (NIPT) for trisomies 21, 18, 13 and monosomy X is widely
utilized with massively parallel shotgun sequencing (MPSS), digital analysis of selected …
utilized with massively parallel shotgun sequencing (MPSS), digital analysis of selected …
[HTML][HTML] Assessing CAR T-cell therapy response using genome-wide sequencing of cell-free DNA in patients with B-cell lymphomas
AM Goodman, KA Holden, AR Jeong, L Kim… - … and Cellular Therapy, 2022 - Elsevier
Methods that enable monitoring of therapeutic efficacy of autologous chimeric antigen
receptor (CAR) T-cell therapy will be clinically useful. The aim of this study is to demonstrate …
receptor (CAR) T-cell therapy will be clinically useful. The aim of this study is to demonstrate …
[HTML][HTML] Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants
E Soster, T Boomer, S Hicks, S Caldwell, B Dyr… - Genetics in …, 2021 - nature.com
Purpose Pregnant women have unprecedented choices for prenatal screening and testing.
Cell-free DNA (cfDNA) offers the option to screen for aneuploidy of all chromosomes and …
Cell-free DNA (cfDNA) offers the option to screen for aneuploidy of all chromosomes and …
Nonreportable rates and cell‐free DNA profiles in noninvasive prenatal testing among women with heparin treatment
N Nakamura, A Sasaki, M Mikami… - Prenatal …, 2020 - Wiley Online Library
Objective To evaluate the “nonreportable” rate in patients treated with heparin and to
determine the effect of heparin on the results of noninvasive prenatal testing (NIPT). Method …
determine the effect of heparin on the results of noninvasive prenatal testing (NIPT). Method …
Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing
Motivation Non-invasive prenatal testing or NIPT is currently among the top researched topic
in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve …
in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve …
Genome-wide sequencing of cell-free dna enables detection of copy-number alterations in patients with cancer where tissue biopsy is not feasible
TJ Jensen, AM Goodman, CK Ellison, KA Holden… - Molecular Cancer …, 2021 - AACR
When tissue biopsy is not medically prudent or tissue is insufficient for molecular testing,
alternative methods are needed. Because cell-free DNA (cfDNA) has been shown to provide …
alternative methods are needed. Because cell-free DNA (cfDNA) has been shown to provide …