Results 11 to 20 of about 6,378 (227)

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples [PDF]

PLOS Computational Biology, 2021
Non-invasive prenatal testing (NIPT) is a powerful screening method for fetal aneuploidy detection, relying on laboratory and computational analysis of cell-free DNA.
Palta, P, Vermeesch, J, Krjutskov, K, Paluoja, Priit, Vermeesch, Joris, Salumets, Andres, Bayindir, B, Bayindir, Baran, Krjutskov, Kaarel, Teder, Hindrek, Palta, Priit, Teder, H, Ardeshirdavani, Amin, Paluoja, P, Ardeshirdavani, A, Salumets, A,   +15 more
core   +11 more sources

NIPT for adult‐onset conditions: Australian NIPT users' views [PDF]

Bioethics
Noninvasive prenatal testing (NIPT) has become widely available in recent years. While initially used to screen for trisomies 21, 18, and 13, the test has expanded to include a range of other conditions and will likely expand further.
Bowman‐Smart, Hilary, Devolder, Katrien, Marks, India R., Mills, Catherine, Johnston, Molly   +4 more
core   +4 more sources

Why NIPT should be publicly funded [PDF]

Journal of Medical Ethics, 2020
Asking pregnant women to (co)pay for non-invasive prenatal testing (NIPT) out of pocket leads to unequal access across socioeconomic strata. To avoid these social justice issues, first-trimester prenatal screening should be publicly funded in countries ...
Bunnik, E.M. (Eline), Beaufort, I.D. (Inez) de, Kater-Kuipers, A. (Adriana), Galjaard, R-J.H. (Robert-Jan)   +3 more
core   +4 more sources

KF-NIPT: K-mer and fetal fraction-based estimation of chromosomal anomaly from NIPT data

BMC Bioinformatics
BACKGROUND: Non-Invasive Prenatal Testing (NIPT) is a technique that allows pregnant women to screen for chromosomal abnormalities in their developing fetus without the need for invasive procedures like amniocentesis or chorionic villus sampling. However,
Woo, HG, Oh, GY, Kim, D, Cho, JH, Sohn, JY, Choi, JH   +5 more
core   +5 more sources

Discordant fetal sex on NIPT and ultrasound [PDF]

Prenatal Diagnosis, 2020
AbstractPrenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell‐free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the midtrimester morphology ultrasound or discovery of genotype‐phenotype discordance in cases where ...
Maria‐Elisabeth Smet, Fergus P. Scott, Andrew C. McLennan   +2 more
openaire   +2 more sources

Factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT) [PDF]

, 2023
OBJECTIVE: To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT). METHOD: A questionnaire study was conducted among 219 pregnant women in the Netherlands who had declined prenatal screening
Dutch NIPT Consortium
core  

To NIPT or Not to NIPT [PDF]

Molecular Syndromology, 2015
After the discovery by Lejeune et al. in 1959 that patients with ‘mongolism’, i.e. Down syndrome, had 3 instead of 2 copies of chromosome 21, a surge of karyotyping resulted in the identification of an aberrant chromosome number as the cause of numerous genetic disorders [Lejeune et al., 1959; Lejeune and Turpin, 1961]. By culturing cells from amniotic
openaire   +2 more sources

Study of phase stability in NiPt systems [PDF]

Journal of Physics: Condensed Matter, 2003
We have studied the problem of phase stability in NiPt alloy system. We have used the augmented space recursion based on the TB-LMTO as the method for studying the electronic structure of the alloys. In particular, we have used the relativistic generalization of our earlier technique. We note that, in order to predict the proper ground state structures
Paudyal, Durga, Saha-Dasgupta, Tanusri, Mookerjee, Abhijit   +2 more
openaire   +2 more sources

Autophagy Induced by Proteasomal DUB Inhibitor NiPT Restricts NiPT-Mediated Cancer Cell Death [PDF]

Frontiers in Oncology, 2020
Ubiquitin-proteasome system (UPS) and autophagy-lysosome pathway (ALP) are two major systems for protein quality control (PQC) in eukaryotic cells. Interconnectivity between these two pathways has been suggested, but the molecular detail of how they impact each other remains elusive.
Jinghong Chen, Jinghong Chen, Xin Chen, Dacai Xu, Li Yang, Li Yang, Zhenjun Yang, Qianqian Yang, Ding Yan, Peiquan Zhang, Du Feng, Jinbao Liu   +11 more
openaire   +3 more sources

More than an Incidentaloma: The Nonreportable NIPT

Case Reports in Obstetrics and Gynecology, 2022
Noninvasive prenatal testing (NIPT), which utilizes a maternal blood sample to detect fetal gender and screen for fetal aneuploidy (abnormal chromosomes), is widely used in obstetrics to screen for Trisomies 21, 18, and 13. Per the literature, approximately 0.3% of pregnant woman’s results are nonreportable.
Allison M. Jay, Brian Mason, Daniel Lebovic, Paul Chuba   +3 more
openaire   +3 more sources