Results 11 to 20 of about 110,198 (324)

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

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

Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma [PDF]

, 2007
Ependymal tumors constitute a clinicopathologically heterogeneous group of brain tumors. They vary in regard to their age at first symptom, localization, morphology and prognosis. Genetic data also suggests heterogeneity.
Chapon, F, Ellison, D, Figarella-Branger, D, Godfraind, C, Lacroix, C, Mikol, J, Palm, T, Rousseau, E, Ruchoux, MM, Salmon, I, Scaravilli, F, Vikkula, M   +11 more
core   +3 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

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

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
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

Down syndrome-recent progress and future prospects [PDF]

, 2009
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia.
Adams, Adayev, Ahn, Ait Yahya-Graison, Altafaj, Antonarakis, Arron, Aylward, Aylward, Bartel, Belichenko, Bercovich, Best, Bliss, Brault, Canfield, Canzonetta, Carothers, Clark, Contestabile, Costa, de Graaf, De Vita, Denoeud, Dowjat, Draheim, E. M.C. Fisher, Ermak, Ermak, F. K. Wiseman, Fernandez, Freeman, Fuentes, Gerstein, Glasson, Granholm, Granholm, Groet, Guidi, Gwack, Harashima, Hasle, Hassold, Hill, Holland, Holtzman, Holtzman, Hunter, Hunter, Izraeli, Janicki, Johannsen, K. A. Alford, Kiyoi, Klusmann, Kuhn, Lai, Lee, Liang, Loos, Lorenzi, Mart  nez de Lagr  n, Maslen, Meng, Moore, Morice, Morris, Morrison, Murthy, Necchi, Nistor, O'Doherty, O'Donovan, O'Nuallain, Olson, Park, Pearlson, Prandini, Richtsmeier, Ryoo, Sato, Seo, Sethupathy, Stefansson, Sultan, Sussan, Toso, Tybulewicz, V. L.J. Tybulewicz, Wahab, Walters, Wechsler, Wegiel, Weis, Williams, Woods, Yang   +96 more
core   +2 more sources

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

Asynchronous excitatory neuron development in an isogenic cortical spheroid model of Down syndrome

Frontiers in Neuroscience, 2022
The intellectual disability (ID) in Down syndrome (DS) is thought to result from a variety of developmental deficits such as alterations in neural progenitor division, neurogenesis, gliogenesis, cortical architecture, and reduced cortical volume. However,
Zhen Li, Jenny A. Klein, Jenny A. Klein, Sanjeev Rampam, Ronni Kurzion, Natalie Baker Campbell, Yesha Patel, Yesha Patel, Tarik F. Haydar, Ella Zeldich   +9 more
doaj   +1 more source