Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Large-scale copy number variants (CNVs) are structural alterations in the genome that
involve the duplication or deletion of DNA segments, contributing to genetic diversity and …
involve the duplication or deletion of DNA segments, contributing to genetic diversity and …
Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory
A Dheedene, T Sante, M De Smet… - Prenatal …, 2016 - Wiley Online Library
Objectives To implement non‐invasive prenatal testing (NIPT) for fetal aneuploidies with
semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first …
semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first …
Open source non‐invasive prenatal testing platform and its performance in a public health laboratory
P Johansen, SR Richter, M Balslev‐Harder… - Prenatal …, 2016 - Wiley Online Library
Objective The objective of this study was to introduce non‐invasive prenatal testing (NIPT)
for fetal autosomal trisomies and gender in a Danish public health setting, using semi …
for fetal autosomal trisomies and gender in a Danish public health setting, using semi …
[HTML][HTML] A two-year experience of non-invasive prenatal testing (NIPT) at an urban tertiary medical center in South Korea
JJ Noh, HM Ryu, S Oh, SJ Choi, CR Roh… - Taiwanese Journal of …, 2019 - Elsevier
Objective To report our experience of implementing non-invasive prenatal testing (NIPT) in a
tertiary urban academic medical center in South Korea. Materials and methods An …
tertiary urban academic medical center in South Korea. Materials and methods An …
The IONA® test: development of an automated cell-free DNA-based screening test for fetal trisomies 13, 18, and 21 that employs the ion proton semiconductor …
F Crea, M Forman, R Hulme, RW Old, D Ryan… - Fetal diagnosis and …, 2017 - karger.com
Objective: To develop a screening test for fetal trisomy 13, 18, and 21 using cell-free DNA
from maternal blood with an automated workflow using the Ion Proton sequencing platform …
from maternal blood with an automated workflow using the Ion Proton sequencing platform …
The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases
S Shen, H Qi, X Yuan, J Gan, J Chen, J Huang - Frontiers in Genetics, 2024 - frontiersin.org
Background Chromosomal abnormalities are the main cause of birth defects in newborns.
Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been …
Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been …
Adaptable model parameters in non-invasive prenatal testing lead to more stable predictions
Recent advances in massively parallel shotgun sequencing opened up new options for
affordable non-invasive prenatal testing (NIPT) for fetus aneuploidy from DNA material …
affordable non-invasive prenatal testing (NIPT) for fetus aneuploidy from DNA material …
Noninvasive prenatal detection of hemoglobin Bart hydrops fetalis via maternal plasma dispensed with parental haplotyping using the semiconductor sequencing …
J Yang, C Peng, Y Qi, X Rao, F Guo, Y Hou… - American Journal of …, 2020 - Elsevier
Background Thalassemia is one of the most common monogenetic diseases in the south of
China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a …
China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a …
Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing
Q Huang, Y Liu, W Lei, J Liang, Y Wang… - Journal of Clinical …, 2023 - Wiley Online Library
Objectives Numerous diseases and disorders are associated with mitochondrial DNA
(mtDNA) mutations, among which m. 1555A> G and m. 1494C> T mutations in the 12 S …
(mtDNA) mutations, among which m. 1555A> G and m. 1494C> T mutations in the 12 S …
A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report
HH Xu, MZ Dai, K Wang, Y Zhang, FY Pan… - BMC Medical …, 2020 - Springer
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 …
prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18 …