Results 41 to 50 of about 111,518 (268)

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

The Clinical Application and Accuracy Evaluation of Noninvasive Prenatal Testing for Common Trisomy and Sex Chromosome Aneuploidy.

Discover medicine, 2023
BACKGROUND Noninvasive prenatal testing (NIPT) has been widely adopted in prenatal examination for fetal chromosomal aneuploidy. The present study aimed to evaluate the clinical features of NIPT for both common trisomy and sex chromosome aneuploidy (SCA).
Yichao Wang, Y. Shao, Juan Yu
semanticscholar   +1 more source

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

Clinical Case Reports, 2020
In the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.
Evy Vervecken, Bettina Blaumeiser, Tina Vanderheyden, Jan Hauspy, Katrien Janssens   +4 more
doaj   +1 more source

Cell-based Noninvasive Prenatal Testing (cbNIPT)—A Review on the Current Developments and Future Prospects

Clinical obstetrics and gynecology, 2023
Considering the diagnostic limitations of cfDNA-based noninvasive prenatal testing (NIPT), scientists have long been interested in isolating and analyzing rare intact fetal and trophoblast cells from maternal blood or endocervical samples to diagnose ...
M. Maktabi, Liesbeth Vossaert, I. B. Van den Veyver   +2 more
semanticscholar   +1 more source

Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

Journal of Biomedicine and Translational Research, 2021
The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders ...
Kavish Kohabir, Rob Wolthuis, Erik A. Sistermans   +2 more
doaj   +1 more source

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

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]

, 2015
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA, E. Ordoñez, H. Dierickx, JC Jani, KH Nicolaides, MM Gil, PJ Willems, V. Cirigliano   +7 more
core   +1 more source

Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option

American Journal of Perinatology Reports, 2016
Objective Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Sarah Mayes, Syed Hashmi, Mark A. Turrentine, Sandra Darilek, Lara A. Friel, Jennifer Czerwinski   +5 more
doaj   +1 more source

Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]

, 2018
Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav, Duris, Frantisek, Gazdarica, Juraj, Gazdaricova, Iveta, Harsanyova, Maria, Kucharik, Marcel, Minarik, Gabriel, Nagy, Balint, Radvanszky, Jan, Sekelska, Martina, Strieskova, Lucia, Szemes, Tomas, Szucs, Gabor, Turna, Jan   +13 more
core   +2 more sources

Cell‐based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Clinical Case Reports, 2020
In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
Lotte Hatt, Ripudaman Singh, Rikke Christensen, Katarina Ravn, Inga B Christensen, Line Dahl Jeppesen, Bolette Hestbek Nicolaisen, Mathias Kølvraa, Palle Schelde, Lotte Andreassen, Richard Farlie, Niels Uldbjerg, Ida Vogel   +12 more
doaj   +1 more source