Results 1 to 10 of about 105,581 (338)

Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area [PDF]

Frontiers in Genetics
BackgroundThis cohort study aimed to evaluate the clinical efficacy of Non-invasive prenatal testing (NIPT) in detecting fetal chromosomal abnormalities within a pregnant population in the Shaoyang area, and to further investigate the potential ...
Muping Zhou, Hua Zhang, Jun Wen, Na Liu, Zhongchun Wu, Ting Lin, Mengyun Tang, Yan Huang, Ying Xiao, Hui Xie, Xia Ouyang, Xiang Xiao, Liyuan Deng, Ning Chen, Ani Zeng, Jinping Peng   +15 more
doaj   +2 more sources

Identifying Differentially Methylated Sites for Methylation-Sensitive qPCR-based NIPT of Trisomies 13 and 18 [PDF]

Advanced Biomedical Research
Background: Trisomies 13 and 18 are severe chromosomal disorders with high neonatal mortality rates. Noninvasive prenatal testing based on next-generation sequencing provides accurate detection of these aneuploidies but remains costly.
Ali Najafi, Erfaneh Dastbaz, Artin Mehrabani, Morteza Rajabi, Ghazal Sedaghat Shayegan, Mohammad Miryounesi, Mohammad H. Modarressi   +6 more
doaj   +2 more sources

Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma [PDF]

Frontiers in Medicine
BackgroundKaryotyping is the standard confirmatory test for identifying chromosomal abnormalities, such as Trisomy 21, which requires amniotic fluid from pregnant women.
Tridiv Katiyar, Medha Srivastava, Suman Mishra, Swasti Tiwari, Shubha Phadke   +4 more
doaj   +2 more sources

Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China [PDF]

Journal of Medical Biochemistry, 2022
Background: Non-invasive prenatal screening (NIPS) is a highly sensitive and specific screening test to detect fetal chromosomal abnormalities. The primary objective of this study was to evaluate the NIPS as an effective method for prenatal detection of ...
Li XiaoZe, Wang LiHong, Yao ZeRong, Ruan FangYing, Hu ZhiPeng, Song WenXia   +5 more
doaj   +1 more source

Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH

Diagnostics, 2021
Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated.
Marcel Kucharík, Jaroslav Budiš, Michaela Hýblová, Gabriel Minárik, Tomáš Szemes   +4 more
doaj   +1 more source

Clinical Efficiency of Non-invasive Prenatal Screening for Common Trisomies in Low-Risk and Twin Pregnancies

Frontiers in Genetics, 2021
To evaluate the clinical efficiency of non-invasive prenatal screening (NIPS) for fetal aneuploidies in low-risk and twin pregnancies, patients who received NIPS in a tertiary university hospital were enrolled, and their clinical data, NIPS results and ...
Yanfei Xu, Pengzhen Jin, Yu Lei, Yeqing Qian, Yeqing Qian, Yuqing Xu, Miaomiao Wang, Jinglei Jin, Yixuan Yin, Minyue Dong, Minyue Dong, Minyue Dong   +11 more
doaj   +1 more source

Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

Diagnostics, 2020
Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA ...
Michaela Hyblova, Maria Harsanyova, Diana Nikulenkov-Grochova, Jitka Kadlecova, Marcel Kucharik, Jaroslav Budis, Gabriel Minarik   +6 more
doaj   +1 more source

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report [PDF]

Neonatal Medicine, 2022
Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or ...
Woo Kyung Kim, Na Mi Lee, In Seok Lim, Soo Ahn Chae, Sin Weon Yun, Dae Yong Yi, Su Yeong Kim   +6 more
doaj   +1 more source

Identification and Genome-Wide Gene Expression Perturbation of a Trisomy in Chinese Kale (Brassica oleracea var. alboglabra)

Plants, 2023
Trisomy harbouring an extra copy of the chromosome generally causes a variety of physical and intellectual disabilities in mammals but is an extremely rare and important genetic stock in plants.
Qun Feng, Junxing Yu, Jie Yu, Mingyang Hu, Lei Gu, Hongcheng Wang, Xuye Du, Bin Zhu, Mengxian Cai   +8 more
doaj   +1 more source

Tunicamycin Potentiates Antifungal Drug Tolerance via Aneuploidy in Candida albicans

mBio, 2021
How cells exposed to one stress are later able to better survive other types of stress is not well understood. In eukaryotic organisms, physiological and pathological stresses can disturb endoplasmic reticulum (ER) function, resulting in “ER stress ...
Feng Yang, Vladimir Gritsenko, Yaniv Slor Futterman, Lu Gao, Cheng Zhen, Hui Lu, Yuan-ying Jiang, Judith Berman   +7 more
doaj   +1 more source