Results 71 to 80 of about 3,638 (166)

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

The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy

Scientific Reports
To evaluate the value of increasing sequencing depths of non-invasive prenatal testing (NIPT) for fetal chromosomal aneuploidies based on the semiconductor sequencing platform.
Dongmei Wang, Fangfang Guo, Yaping Hou, Haishan Peng, Tingting Hu, Jiexia Yang   +5 more
doaj   +1 more source

NIPT and the concerns regarding ‘routinisation’ [PDF]

European Journal of Human Genetics, 2022
openaire   +2 more sources

KF-NIPT: K-mer and fetal fraction-based estimation of chromosomal anomaly from NIPT data

BMC Bioinformatics
Non-Invasive Prenatal Testing (NIPT) is a technique that allows pregnant women to screen for chromosomal abnormalities in their developing fetus without the need for invasive procedures like amniocentesis or chorionic villus sampling. However, current methods to detect anomaly from maternal cell-free DNAs (cfDNAs) that are based on the sequence read ...
Dongin Kim, Ji Yeon Sohn, Jin Hee Cho, Ji-Hye Choi, Gwi-young Oh, Hyun Goo Woo   +5 more
openaire   +3 more sources

Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis

BMJ Open, 2014
Background The first- and second-trimester screening for trisomy 21 (T21) are reimbursed for all pregnant women in Belgium. Using a cut-off risk of 1:300 for T21, about 5% of all pregnant women are referred for definitive prenatal diagnosis using an ...
Mattias Neyt, Frank Hulstaert, Wilfried Gyselaers   +2 more
doaj   +1 more source

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

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

Noninvasive prenatal testing for the detection of fetal chromosome 17 microduplication: clinical implications and findings

Molecular Cytogenetics
Background  Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions.
Ye Shi, Fang-xiu Zheng, Jing Wang, Qin Zhou, Ying-ping Chen, Bin Zhang   +5 more
doaj   +1 more source

The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases

Frontiers in Genetics
BackgroundChromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13).
Shichun Shen, Haimei Qi, Xianping Yuan, Jinhui Gan, Junkun Chen, Jungao Huang   +5 more
doaj   +1 more source

Non-invasiv prenatal test (NIPT) [PDF]

Tidsskrift for Den norske legeforening, 2020
openaire   +2 more sources