Results 61 to 70 of about 111,518 (268)

Digynic triploidy: Utility and challenges of noninvasive prenatal testing [PDF]

, 2015
Low fraction fetal DNA in noninvasive prenatal testing in the context of fetal growth restriction and multiple congenital anomalies should alert medical professionals to the possibility of digynic triploidy.
Baldridge, Dustin, Cottrell, Catherine E, Fleischer, Julie, Goetzinger, Katherine, Shenoy, Archana, Shinawi, Marwan, White, Frances V   +6 more
core   +3 more sources

Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally.

Clinical Chemistry, 2022
BACKGROUND Fetal fraction (FF) measurement is considered important for reliable noninvasive prenatal testing (NIPT). Using minimal FF threshold as a quality parameter is under debate.
E. Becking, J. Linthorst, S. Patton, W. Gutowska-Ding, Rebecca Goodall, Farrah Khawaja, Fiona Morgan, Z. Deans, L. Chitty, M. Bekker, P. Scheffer, E. Sistermans   +11 more
semanticscholar   +1 more source

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy. [PDF]

, 2017
Current cell-free DNA (cfDNA) next generation sequencing (NGS) precision oncology workflows are typically limited to targeted and/or disease-specific applications.
Alva, Ajjai S, Brockman, Scott, Chinnaiyan, Arul M, Chugh, Rashmi, Feng, Felix Y, Grasso, Catherine S, Gursky, Amy, Haakenson, Christine, Henderson, James, Herman, Kirk, Hovelson, Daniel H, Husain, Hatim, Hussain, Maha H, Kamberov, Emmanuel, Kandarpa, Malathi, Kang, Qing, Krauss, John C, Langmore, John, Liu, Chia-Jen, Lonigro, Robert J, Mills, Ryan E, Morgan, Todd M, Quist, Michael J, Ramnath, Nithya, Robinson, Dan, Smith, David C, Talpaz, Moshe, Tesmer, Tim, Tewari, Muneesh, Tomlins, Scott A, Tuck, Missy, Wang, Yugang   +31 more
core   +1 more source

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie, Jiang, Tao, Wang, Ting, Yu, Bin, Zhang, Bin, Zhang, Xiao-Juan, Zhang, Xiao-Qing   +6 more
core   +1 more source

Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy [PDF]

, 2016
Background: Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA reads for NIPT.
A Fortuny, A Tabor, AB Sparks, B Langmead, BF Crandall, Byung Chul Kim, C Liao, CJ McNamara, DW Bianchi, E Wang, FR Grati, G Ashoor, GE Palomaki, GP Henry, H Li, Hee Jae Joo, HeeJung Jung, Hongliang Chen, Hwanjong Kwak, Hyungsik Chu, JeongSub Kwon, JF Boland, Jong Bhak, K Song, KC Chan, KH Nicolaides, Kyudong Han, M Ehrich, M Smid, MA Quail, ME Norton, Min Gyun Kim, MJKT Barch, N Vrachnis, P Benn, R Li, S Chen, S Morgan, SeungJae Lee, Sung Hee Han, Sunghoon Park, Sunshin Kim, TK Lau, Y Wang, Y Wang, Y Yuan, YJ Jeon, YM Lo, YM Lo   +48 more
core   +1 more source

Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review

Molecular Cytogenetics, 2022
Objective Since 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion, with both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this testing tool are lacking. Thus, there is a continued
Si-ping Liu, Fang Yang, Q. Chang, B. Jia, Yushuang Xu, R. Wu, Li-Yan Li, Weishan Chen, Ai-lan Yin, Fodi Huang, Suxin Feng, Fenxia Li   +11 more
semanticscholar   +1 more source

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications [PDF]

, 2016
ArticleLe test prénatal non-invasif (TPNI) reposant sur l’utilisation de l’ADN fœtal libre (cffDNA) dans le sang maternel a été introduit dans la pratique clinique dans de nombreux pays, incluant le Canada.
Dupras, Charles, Haidar, Hazar, Ravitsky, Vardit   +2 more
core   +2 more sources

Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes : a systematic review and meta-analysis [PDF]

, 2016
Objective: To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy.
Agbebiyi, Adeola, Clarke, Aileen, Clarke, Angus, Freeman, Karoline, Geppert, Julia, Madan, Jason, Quenby, Siobhan, Taylor-Phillips, Sian, Uthman, Olalekan A.   +8 more
core   +2 more sources

Fetal Fraction of Cell-Free DNA in Noninvasive Prenatal Testing and Adverse Pregnancy Outcomes: A Nationwide Retrospective Cohort Study of 56,110 Pregnant Women

Obstetrical & Gynecological Survey
(Abstracted from Am J Obstet Gynecol 2024;231:244.e1–244.e18) Noninvasive prenatal testing (NIPT) for Down, Edwards, and Patau syndromes is widely available. Its accuracy depends on a sufficient amount of fetal cell-free DNA (cfDNA) in maternal plasma.
E. Becking, Peter G. Scheffer, J. Henrichs, C. Bax, Neeltje Crombag, M. Weiss, M. Macville, D. Van Opstal, E. Boon, E. Sistermans, L. Henneman, E. Schuit, Mireille N. Bekker   +12 more
semanticscholar   +1 more source

Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China

Frontiers in Medicine, 2022
Background The relatively high incidence and the clinical symptoms of sex chromosome aneuploidies (SCAs) make prenatal screening of SCAs an attractive option for pregnant women.
Ganye Zhao, P. Dai, Conghui Wang, Li'na Liu, Xuechao Zhao, X. Kong   +5 more
semanticscholar   +1 more source