Results 11 to 20 of about 97,595 (299)

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

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

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

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]

, 2015
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA, E. Ordoñez, H. Dierickx, JC Jani, KH Nicolaides, MM Gil, PJ Willems, V. Cirigliano   +7 more
core   +1 more source

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]

, 2011
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M, Kohannim, Omid, Peredo, Jane, Quintero-Rivera, Fabiola   +3 more
core   +2 more sources

Development of a comprehensive noninvasive prenatal test

Genetics and Molecular Biology, 2018
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental ...
Carolina Malcher, Guilherme L. Yamamoto, Philip Burnham, Suzana A.M. Ezquina, Naila C.V. Lourenço, Sahilla Balkassmi, David S. Marco Antonio, Gabriella S.P. Hsia, Thomaz Gollop, Rita C. Pavanello, Marco Antonio Lopes, Egbert Bakker, Mayana Zatz, Débora Bertola, Iwijn De Vlaminck, Maria Rita Passos-Bueno   +15 more
doaj   +1 more source

Prenatal Diagnosis of Umbilical Artery Aneurysm with Good Fetal Outcome and Review of Literature [PDF]

Journal of Clinical and Diagnostic Research, 2016
Umbilical artery aneurysm is a rare condition. Till date, 14 cases are reported and only 4 had good fetal outcome. Umbilical artery aneurysm is associated with high risk of fetal aneuploidy and fetal demise.
Neetha M Vyas, Lakshmi Manjeera, Supriya Rai, Sharath Devdas   +3 more
doaj   +1 more source

Leukemia-related chromosomal loss detected in hematopoietic progenitor cells of benzene-exposed workers. [PDF]

, 2012
Benzene exposure causes acute myeloid leukemia and hematotoxicity, shown as suppression of mature blood and myeloid progenitor cell numbers. As the leukemia-related aneuploidies monosomy 7 and trisomy 8 previously had been detected in the mature ...
Guo, W, Hayes, R, Hubbard, A, Ji, Z, Lan, Q, Li, G, Linet, M, McHale, C, Rappaport, S, Rothman, N, Shen, M, Smith, Martyn T., Vermeulen, R, Yin, S, Zhang, L   +14 more
core   +1 more source

Hydroxyurea Improves Spatial Memory and Cognitive Plasticity in Mice and Has a Mild Effect on These Parameters in a Down Syndrome Mouse Model

Frontiers in Aging Neuroscience, 2019
Down syndrome (DS), a genetic disorder caused by partial or complete triplication of chromosome 21, is the most common genetic cause of intellectual disability.
Rebecca Deering Brose, Alena Savonenko, Benjamin Devenney, Kirby D. Smith, Roger H. Reeves, Roger H. Reeves   +5 more
doaj   +1 more source

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions

Diagnostics, 2023
Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21).
Siva Shantini Jayashankar, Muhammad Luqman Nasaruddin, Muhammad Faiz Hassan, Rima Anggrena Dasrilsyah, Mohamad Nasir Shafiee, Noor Akmal Shareela Ismail, Ekram Alias   +6 more
doaj   +1 more source