Results 11 to 20 of about 105,581 (338)

Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. [PDF]

PLoS ONE, 2011
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21.
Eric Z Chen, Rossa W K Chiu, Hao Sun, Ranjit Akolekar, K C Allen Chan, Tak Y Leung, Peiyong Jiang, Yama W L Zheng, Fiona M F Lun, Lisa Y S Chan, Yongjie Jin, Attie T J I Go, Elizabeth T Lau, William W K To, Wing C Leung, Rebecca Y K Tang, Sidney K C Au-Yeung, Helena Lam, Yu Y Kung, Xiuqing Zhang, John M G van Vugt, Ryoko Minekawa, Mary H Y Tang, Jun Wang, Jun Wang, Cees B M Oudejans, Tze K Lau, Kypros H Nicolaides, Y M Dennis Lo   +28 more
doaj   +2 more sources

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

Genes, 2023
We report on the case of prenatal detection of trisomy 2 in placental biopsy and further algorithm of genetic counseling and testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling and preferred targeted ...
O. Talantova, A. S. Koltsova, A. Tikhonov, A. Pendina, O. Malysheva, O. Tarasenko, E. Vashukova, E. Shabanova, Arina V. Golubeva, O. Chiryaeva, A. Glotov, O. Bespalova, O. Efimova   +12 more
semanticscholar   +1 more source

Consequences of aneuploidy in human fibroblasts with trisomy 21

Proceedings of the National Academy of Sciences of the United States of America, 2020
Significance An abnormal number of chromosomes or aneuploidy accounts for most spontaneous abortions, as missegregation of a single chromosome during development is often lethal.
Sunyoung Hwang, Paola Cavaliere, Rui Li, L. Zhu, Noah E. Dephoure, Eduardo M. Torres   +5 more
semanticscholar   +1 more source

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

Human Genomics, 2020
Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, and T13 after serum biochemistry screening ...
Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, guoquan chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang, Fubing Yu   +13 more
semanticscholar   +1 more source

Result of Prospective Validation of the Trisomy Test^® for the Detection of Chromosomal Trisomies

Diagnostics, 2019
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing.
Martina Sekelska, Anita Izsakova, Katarina Kubosova, Petra Tilandyova, Erika Csekes, Zaneta Kuchova, Michaela Hyblova, Maria Harsanyova, Marcel Kucharik, Jaroslav Budis, Tomas Szemes, Gabriel Minarik   +11 more
doaj   +1 more source

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

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

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

Trisomy 21 consistently activates the interferon response

eLife, 2016
Although it is clear that trisomy 21 causes Down syndrome, the molecular events acting downstream of the trisomy remain ill defined. Using complementary genomics analyses, we identified the interferon pathway as the major signaling cascade consistently ...
Kelly D. Sullivan, Hannah C. Lewis, A. Hill, A. Pandey, L. Jackson, L. Jackson, L. Jackson, Joseph M Cabral, Joseph M Cabral, Joseph M Cabral, Keith P. Smith, L. Liggett, E. Gómez, E. Gómez, E. Gómez, M. Galbraith, J. DeGregori, J. Espinosa   +17 more
semanticscholar   +1 more source