Results 31 to 40 of about 42,912 (201)

Non-Invasive Prenatal Testing beyond Trisomies

Journal of Medicine and Life, 2019
The last decade has seen incredible advances in the genetic era, in next-generation sequencing of cell-free DNA in the maternal plasma, detecting abnormal fetal chromosomes. Non-invasive prenatal testing (NIPT) has showed increased sensitivity and specificity for Down syndrome superior to any other screening test.
Suciu, Ioan Dumitru, Toader, Oana Daniela, Galeva, Slavyana, Pop, Lucian   +3 more
openaire   +2 more sources

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

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

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases [PDF]

, 2011
Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children.
Asli Subasioglu Uzak, Munis Dundar, Murat Erdogan, Yagut Akbarova   +3 more
core   +1 more source

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges [PDF]

Genes, 2020
Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions.
Carbone L., Cariati F., Sarno L., Conforti A., Bagnulo F., Strina I., Pastore L., Maruotti G. M., Alviggi C.   +8 more
openaire   +3 more sources

Testing Times: The Social Life of Non-invasive Prenatal Testing [PDF]

Science, Technology and Society, 2020
Non-invasive prenatal testing (NIPT) is a genomic technology used to predict the chance of a foetus having a genetic condition. Despite the immediacy of this technology’s integration into clinical practice, there is a dearth of evidence outlining how both patients and professionals experience NIPT on the ground.
Thomas, Gareth M., Rothman, Barbara Katz, Strange, Heather, Latimer, Joanna   +3 more
openaire   +1 more source

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

Non-invasive prenatal paternity testing using mini-STR-based next-generation sequencing: a pilot study

Journal of Laboratory Medicine, 2022
To assess the efficacy of a mini-STR-based next-generation sequencing (NGS) method for non-invasive prenatal paternity testing (NIPPT).
Song Wenqian, Xiao Nan, Zhou Shihang, Yu Weijian, Wang Ni, Shao Linnan, Liang Xiaohua   +6 more
doaj   +1 more source

Non-invasive Prenatal Testing for Fetal Whole Genome Sequencing: An Interpretive Critical Review of the Ethical, Legal, Social, and Policy Implications

Canadian Journal of Bioethics, 2022
Introduction: Non-invasive prenatal testing (NIPT) allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma.
Hazar Haidar, Renata Iskander
doaj   +1 more source