Results 21 to 30 of about 58,461 (159)

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

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

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

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). [PDF]

PLoS ONE, 2017
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation.
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun   +18 more
doaj   +1 more source

Hypermetabolism in mice carrying a near-complete human chromosome 21

eLife, 2023
The consequences of aneuploidy have traditionally been studied in cell and animal models in which the extrachromosomal DNA is from the same species. Here, we explore a fundamental question concerning the impact of aneuploidy on systemic metabolism using ...
Dylan C Sarver, Cheng Xu, Susana Rodriguez, Susan Aja, Andrew E Jaffe, Feng J Gao, Michael Delannoy, Muthu Periasamy, Yasuhiro Kazuki, Mitsuo Oshimura, Roger H Reeves, G William Wong   +11 more
doaj   +1 more source

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Frontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi, Miho Takami, Mami Matsuo-Takasaki   +2 more
doaj   +1 more source

Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy

Taiwanese Journal of Obstetrics & Gynecology, 2007
Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations.
Chih-Ping Chen
doaj   +1 more source

Single umbilical artery: a continuous dilemma and challenge in obstetric management

Clinical and Experimental Obstetrics & Gynecology, 2021
Background: The single umbilical artery (SUA), an entity with almost unknown etiology, is still subject to discussion regarding its clinical significance, especially when it is an isolated discovery (iSUA).
Oana Sorina Tica, Andrei Adrian Tica, Doriana Cojocaru, Irina Tica, Victor Cojocaru, Vlad Iustin Tica   +5 more
doaj   +1 more source