Results 121 to 130 of about 8,134 (208)

A "szabad" nukleinsavak jelentősége a noninvazív diagnosztikában [PDF]

, 2018
K
Csanádi, Zoltán, Nagy, Bálint, Póka, Róbert   +2 more
core   +3 more sources

Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Case report: We present a pregnancy
Liang-Ming Lo, Chii-Shinn Shiau, Kuang-Chao Chen, S.W.S. Shaw, Peter Benn   +4 more
doaj   +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

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Patient‐Reported Outcome Measures in Fetal Medicine: A Pilot Feasibility Study

Prenatal Diagnosis, Volume 45, Issue 13, Page 1757-1766, December 2025.
ABSTRACT Objective A core set of generic Patient Reported Outcome Measures (PROMs) was recently developed to collect information from patients about their health status and quality of life. This study aims to: (1) identify relevant Patient Reported Outcome Measures (PROMs) from this core set for parents facing a fetal anomaly diagnosis and determine ...
N. M. T. H. Crombag, B. Teeuwen, E. M. P. Akkerman, B. M. E. Adriaanse, A. L. Depla, A. Franx, A. J. M. Oerlemans, D. Stemkens, L. Henneman, M. N. Bekker   +9 more
wiley   +1 more source

Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy. [PDF]

, 2015
Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing.
Chitty, LS, Hill, M, Lewis, C, Skirton, H   +3 more
core   +1 more source

Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies

Taiwanese Journal of Obstetrics & Gynecology
Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may ...
Chih-Ping Chen
doaj   +1 more source

Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study [PDF]

, 2017
BACKGROUND: The availability of non-invasive prenatal testing (NIPT) for aneuploidies is expanding rapidly throughout the world. Training health professionals to offer NIPT in a way that supports informed choice is essential for implementation.
Chitty, LS, Daley, R, Hill, M, Lewis, C, Oxenford, K   +4 more
core   +2 more sources

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters

Frontiers in Genetics, 2019
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu, Yiyang Zhu, Yiyang Zhu, Qunda Shan, Qunda Shan, Jiayong Zheng, Qunxi Cai, Huanli Yang, Jianhong Zhang, Xiaodong Du, Fan Jin, Fan Jin   +11 more
doaj   +1 more source

Adoption of a non-invasive prenatal test (NIPT) in prenatal screening in Moscow: first results [PDF]

, 2021
А.С. Оленев, Elena E. Baranova, Olesya Sagaydak, Alexandra M. Galaktionova, Е.С. Кузнецова, Madina T. Kaplanova, Maxim S. Belenikin, E.N. Songolova   +7 more
openalex   +1 more source