Results 21 to 30 of about 81,066 (200)

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, Amanda A Hill, Ahwan Pandey, Leisa P Jackson, Joseph M Cabral, Keith P Smith, L Alexander Liggett, Eliana B Gomez, Matthew D Galbraith, James DeGregori, Joaquín M Espinosa   +11 more
doaj   +1 more source

New cut-off values for screening of trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester in pregnant women with advanced maternal age

BMC Pregnancy and Childbirth, 2020
Background To determine whether advanced maternal age (AMA) causes changes in the maternal serum markers of Trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester of pregnancy.
Yiming Chen, Xue Wang, Liyao Li, Sha Lu, Zhifen Zhang   +4 more
doaj   +1 more source

High-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive NIPT for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and intrauterine fetal death in late gestation

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present high-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) for trisomy 21, prenatal progressive decrease of the trisomy 21 cell line, acute fatty liver of pregnancy and
Chih-Ping Chen, Liang-Kai Wang, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang   +7 more
doaj   +1 more source

A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age [PDF]

, 2003
ObjectiveThis study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate ...
Zhu, Yuning, Lu, Shiming, Bian, Xuming, Wang, He, Zhu, Baosheng, Wang, Hua, Xu, Zhengfeng, Xu, Liangpu, Yan, Weihua, Zeng, Yan, Chen, Zhiyang, Tang, Shaohua, Shen, Guosong, Miao, Zhengyou   +13 more
core   +2 more sources

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A., Patel, Suketu D., Tankimanova, Maira, Westgren, Magnus, Papadogiannakis, Nikos, Jonsson, Anna Maria, Iwarsson, Erik   +6 more
core   +1 more source

False negative NIPT results: Risk figures for chromosomes 13,18 and 21 based on chorionic villi results in 5967 cases and literature review [PDF]

, 2016
Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin ...
Berg, C.D.F. (Cardi) van den, Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Polak, J. (Joke), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Vries, F.A.T. (Femke) de   +10 more
core   +1 more source

Ageing and Olfactory Dysfunction in Trisomy 21: A Systematic Review

Brain Sciences, 2021
Purpose: The olfactory system is particularly vulnerable in an ageing brain, both anatomically and functionally, and these brain changes are more pronounced among individuals with trisomy 21.
Hanani Abdul Manan, Noorazrul Yahya
doaj   +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

Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome.
Chih-Ping Chen, Jui-Der Liou, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Yun-Yi Chen, Wayseen Wang   +8 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