Results 71 to 80 of about 111,518 (268)

Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing

Clinical Case Reports, 2021
Prenatal diagnosis of trisomy 20p seems to be difficult, considering the capacity of ultrasound to detect mild dysmorphic. NIPT has good performance in detecting fetal trisomy 20p combined with low coverage WGS and karyotype analysis.
Xu Yan, Haiying Peng, Changjun Zhang
doaj   +1 more source

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]

, 2016
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS, Drury, S, Hill, M, Jenkins, L, Mason, S, Morris, S, Verhoef, TI   +6 more
core   +1 more source

Detection of fetal trisomy 9 mosaicism by noninvasive prenatal testing through maternal plasma DNA sequencing

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: Noninvasive prenatal testing (NIPT) is widely used as a powerful screening tool to detect common aneuploidies. However, its application for detection of rare chromosomal abnormalities remains inconclusive.
Chung-Yuan Lee, Hsing-Ju Su, Yu-Tzu Cheng, Yu-Lun Ku, Yeh Giin Ngo, Che-Min Chen, Yu-Che Ou, Meng-Chih Lee, Sheng-Wen Steven Shaw   +8 more
doaj   +1 more source

Sünnieelne mitteinvasiivne geneetiline sõeluuring – võidukäik ja puudujäägid [PDF]

, 2016
Paljudes Euroopa maades on sünnieelne kromosoomhaiguste sõeluuring riiklikult korraldatud: rasedatele pakutakse vereseerumi markerite määramist ning loote ultraheliuuringuid.
Krjutškov, Kaarel, Reimand, Tiia, Roost, Anne Mari   +2 more
core   +2 more sources

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

Acta Obstetricia et Gynecologica Scandinavica, 2020
Noninvasive prenatal testing (NIPT) using cell‐free fetal DNA has increasingly been adopted as a screening tool for fetal aneuploidies. Several studies have discussed benefits and limitations of NIPT compared with both ultrasound and invasive procedures,
K. Gadsbøll, O. Petersen, V. Gatinois, H. Strange, B. Jacobsson, R. Wapner, Joris Robert Vermeesch, I. Vogel   +7 more
semanticscholar   +1 more source

Noninvasive prenatal testing of beta-thalassemia for common Pakistani mutations: a comparative study using cell-free fetal DNA from maternal plasma and chorionic villus sampling

Hematology, 2022
Background The discovery of circulating cell-free fetal DNA (cff-DNA) in maternal plasma has inspired the noninvasive prenatal testing (NIPT) approaches for various genetic fetal screening including rhesus D typing, sex determination, aneuploidies, and ...
Muhammad Afzal, M. Naeem, Suhaib Ahmed, Nayyar Amin, A. Rahim, Manazza Munawar, M. Ishaq, A. Rathore, K. Maria   +8 more
semanticscholar   +1 more source

Noninvasive prenatal molecular karyotyping from maternal plasma. [PDF]

PLoS ONE, 2013
Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively.
Stephanie C Y Yu, Peiyong Jiang, Kwong W Choy, Kwan Chee Allen Chan, Hye-Sung Won, Wing C Leung, Elizabeth T Lau, Mary H Y Tang, Tak Y Leung, Yuk Ming Dennis Lo, Rossa W K Chiu   +10 more
doaj   +1 more source

Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study

Molecular Genetics & Genomic Medicine, 2022
Noninvasive prenatal testing (NIPT) is a screening tool for chromosomal aneuploidies. Prior knowledge of NIPT is an inherent factor in the decision‐making process.
Maaged A Akiel, M. Mohamud, E. Masuadi, Hassan S. Alamri   +3 more
semanticscholar   +1 more source

Clinical Applications of Noninvasive Prenatal Testing [PDF]

Journal of Fetal Medicine, 2015
AbstractPrenatal screening for aneuploidy provides individualized risk assessment that helps patients and clinicians decide who may choose invasive diagnostic testing. Noninvasive prenatal testing (NIPT) is a new technology that analyzes cell-free fetal DNA in maternal serum to screen for trisomy 21 and other common aneuploidies.
Elizabeth T. Greeley, Kimberly A. Kessler, Nidhi Vohra   +2 more
openaire   +1 more source

Social and medical need for whole genome high resolution NIPT

Molecular Genetics & Genomic Medicine, 2020
Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy.
Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal   +12 more
doaj   +1 more source