Results 41 to 50 of about 8,134 (208)

Non‐invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins

Prenatal Diagnosis, 2023
The screening performance of non‐invasive prenatal testing (NIPT) in vanishing twin (VT) pregnancies is relatively unknown. To close this knowledge gap, we conducted a systematic review of the available literature. Studies describing the test performance
J. C. A. van Eekhout, M. Bekker, C. Bax, R. Galjaard   +3 more
semanticscholar   +1 more source

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

Molecular Cytogenetics, 2021
Background Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.
Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch, Beata Anna Nowakowska   +12 more
doaj   +1 more source

Knowledge and Attitude Regarding Non-Invasive Prenatal Testing (NIPT) among Women: A Cross-Sectional Study in Saudi Arabia

Clinical and Experimental Obstetrics & Gynecology, 2023
Background: The most prevalent type of inherited intellectual disability worldwide is Down syndrome. Prenatal testing can determine the possibility of a pregnant woman giving birth to an infant with Down’s.
Nedaa Mohammed Bahkali, Ghaida Abdullah Eissa, Abdulaziz Mohammed Bashar Shaheen, Abdullah Mohammed Sanedi, Duaa Mohammed Bahkali   +4 more
doaj   +1 more source

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

Frontiers in Genetics, 2023
To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women ...
Yongyi Zou, Yongyi Zou, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Xinrong Wang, Tingting Huang, Tingting Huang, Yan Yang, Yan Yang, Kang Xie, Kang Xie, Huizhen Yuan, Huizhen Yuan, Shuhui Huang, Shuhui Huang, Bicheng Yang, Bicheng Yang, Wan Lu, Wan Lu, Yanqiu Liu, Yanqiu Liu   +22 more
doaj   +1 more source

Challenges and clinical implications of discordant non-invasive prenatal testing results: insights from two case studies [PDF]

Folia Medica
Non-invasive prenatal testing (NIPT) has transformed prenatal screening, offering high sensitivity and specificity in the detection of common fetal aneuploidies.
Slavyana Galeva, Boris Stoilov, Ekaterina Uchikova   +2 more
doaj   +3 more sources

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform

Molecular Cytogenetics, 2018
Background Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not be used to diagnose trisomies ...
Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia, Shihong Cui   +5 more
doaj   +1 more source

A new era in prenatal care: non-invasive prenatal testing in Switzerland

Swiss Medical Weekly, 2014
QUESTIONS UNDER STUDY: Prenatal care has been significantly influenced by the introduction of non-invasive prenatal testing (NIPT) for aneuploidies in 2012. The aim of this study was to describe the current impact of NIPT on prenatal care.
Gwendolin Manegold-Brauer, Anjeung Kang Bellin, Sinuhe Hahn, Christian De Geyter, Johanna Buechel, Irene Hoesli, Olav Lapaire   +6 more
doaj   +1 more source

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact [PDF]

, 2016
Objective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).
Bax, C.J. (Caroline), Bekker, M.N. (Mireille), Bilardo, C.M. (Caterina Maddalena), Boon, E.M.J. (Elles ), Coumans, A. (Audrey), Faas, B.H.W. (Brigitte), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Henneman, L. (Lidewij), Huijsdens-van Amsterdam, K. (Karin), Macville, M.V.E. (Merryn), Oepkes, D., Page-Christiaens, G.C.L. (G. C. Lieve), Pajkrt, E. (Eva), Schuring-Blom, G.H. (Heleen), Sistermans, E.A. (Erik), Suijkerbuijk, R. (Ron), Van Opstal, A.R.M. (Diane), Verweij, E.J.J. (E. J. Joanne), Weiss, M.M. (Marjan M.)   +19 more
core   +1 more source

Recent trends in prenatal genetic screening and testing [version 1; peer review: 2 approved]

F1000Research, 2019
Prenatal testing in recent years has been moving toward non-invasive methods to determine the fetal risk for genetic disorders without incurring the risk of miscarriage.
Ondrej Pös, Jaroslav Budiš, Tomáš Szemes   +2 more
doaj   +1 more source