Results 131 to 140 of about 195,583 (261)

Non-invasive prenatal testing for aneuploidy, copy number variants and single gene disorders [PDF]

, 2020
The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus.
Chandler, N, Chitty, L, Scotchman, E, Shaw, J   +3 more
core  

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study

BMC Pregnancy and Childbirth, 2022
Background The purpose of this study is to evaluate the impact of prenatal screening tests on prenatal diagnosis in Taiwan’s 14 years from 2006 to 2019. Methods The prenatal screening methods evolved from the second-trimester serum screening to combined ...
Ching Hua Hsiao, Ching Hsuan Chen, Po Jen Cheng, Steven W. Shaw, Woei Chyn Chu, Ran Chou Chen   +5 more
doaj   +1 more source

Detection of contamination in noninvasive prenatal fetal gender test [PDF]

arXiv, 2015
The risk of false positive results in noninvasive prenatal diagnosis focused on fetal gender and RhD status determination could be a problem in clinical routine. This is because these tests are based on detection of presence of DNA sequences with high population frequency and so there is the risk of sample contamination during sample collection and ...
arxiv  

First-principles calculations on the spin anomalous Hall effect of ferromagnetic alloys [PDF]

arXiv, 2021
The spin anomalous Hall effect (SAHE) in ferromagnetic metals, which can generate spin-orbit torque to rotate the magnetization of another ferromagnetic layer through a non-magnetic spacer in magnetic junctions, has attracted much attention. We theoretically investigated the spin anomalous Hall conductivity (SAHC) of the L1$_0$-type alloys $X$Pt($X$=Fe,
arxiv  

Sünnieelne mitteinvasiivne geneetiline sõeluuring – võidukäik ja puudujäägid [PDF]

, 2016
Paljudes Euroopa maades on sünnieelne kromosoomhaiguste sõeluuring riiklikult korraldatud: rasedatele pakutakse vereseerumi markerite määramist ning loote ultraheliuuringuid.
Krjutškov, Kaarel, Reimand, Tiia, Roost, Anne Mari   +2 more
core   +2 more sources

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Phase Stability in 3d-5d (NiPt and CuAu) and 3d-4d (NiPd and CuAg) Systems [PDF]

arXiv, 2004
We show the differences in the stability of 3d-5d (NiPt and CuAu) and 3d-4d (NiPd and CuAg) alloys arise mainly due to relativistic corrections. The magnetic properties of disordered NiPd and NiPt alloys also differ due to these corrections which lead to increase in the separation between s-d bands of 5d elements in these alloys.
arxiv  

Detection of human cytomegalovirus cell‐free DNA in pregnant women with symptomatically infected fetuses: proof‐of‐concept study

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 470-477, April 2025.
ABSTRACT Objective To evaluate the presence and levels of cytomegalovirus (CMV) cell‐free DNA (cfDNA) fragments in women pregnant with a fetus with symptomatic congenital CMV (cCMV). Methods The study comprised nine women whose fetuses were diagnosed with cCMV between June 2019 and July 2024 at 20 + 4 to 34 + 1 weeks' gestation (n = 8) or neonatally (n 
B. H. W. Faas, T. Meuleman, G. Astuti, A. Reuss, K. Stol, E. A. Sistermans, J. Linthorst, E. van Leeuwen, J. Rahamat‐Langendoen, F. A. Wilmink   +9 more
wiley   +1 more source

Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review

Taiwanese Journal of Obstetrics & Gynecology, 2020
Non-invasive prenatal testing (NIPT) is performed worldwide to detect common chromosomal aneuploidies. The analysis of cell-free DNA (cfDNA) in maternal blood for NIPT is highly accurate for the detection of the main fetal trisomies: 21,18, and 13 ...
Osamu Samura, Aikou Okamoto
doaj