Potential diagnostic consequences of applying non‐invasive prenatal testing: population‐based study from a country with existing first‐trimester screening

OB Petersen, I Vogel, C Ekelund, J Hyett… - … in Obstetrics & …, 2014 - Wiley Online Library
Objectives Targeted non‐invasive prenatal testing (NIPT) tests for trisomies 21, 18 and 13
and sex chromosome aneuploidies and could be an alternative to traditional karyotyping …

High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma

TJ Jensen, T Zwiefelhofer, RC Tim, Ž Džakula, SK Kim… - PloS one, 2013 - journals.plos.org
Background Circulating cell-free (ccf) fetal DNA comprises 3–20% of all the cell-free DNA
present in maternal plasma. Numerous research and clinical studies have described the …

Noninvasive prenatal testing for trisomy 21: Challenges for implementation in A ustralia

L Hui, J Hyett - Australian and New Zealand Journal of …, 2013 - Wiley Online Library
The term 'Non invasive prenatal testing'is used to describe the rapidly emerging molecular
technologies related to cell free DNA assessment that are being applied to prenatal …

The epigenome view: An effort towards non-invasive prenatal diagnosis

EA Papageorgiou, G Koumbaris, E Kypri… - Genes, 2014 - mdpi.com
Epigenetic modifications have proven to play a significant role in cancer development, as
well as fetal development. Taking advantage of the knowledge acquired during the last …

Methods and compositions for noninvasive prenatal diagnosis of fetal aneuploidies

PC Patsalis, EA Papageorgiou - US Patent 9,249,462, 2016 - Google Patents
FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-
amino-3-phenylpropanoyl] amino]-3-phenylpropanoyl] amino]-4-methylpentanoyl] amino] …

Modified methylated DNA immunoprecipitation protocol for noninvasive prenatal diagnosis of Down syndrome

F Karami, MR Noori‐Daloii, K Omidfar… - Journal of Obstetrics …, 2018 - Wiley Online Library
Aim Methylated DNA immunoprecipitation real‐time quantitative polymerase chain reaction
(MeDIP‐real‐time qPCR) has been introduced as noninvasive prenatal test that has shown …

qRT-PCR evaluation of the transcriptional response of zebra mussel to heavy metals

J Jaumot, A Navarro, M Faria, C Barata, R Tauler… - Bmc Genomics, 2015 - Springer
Background The transcriptional response of adult zebra mussels (Dreissena polymorpha) to
heavy metals (mercury, copper, and cadmium) was analyzed by quantitative Real-Time …

Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery

EA Papageorgiou, PC Patsalis - BMC medicine, 2013 - Springer
Noninvasive prenatal diagnosis of chromosomal aneuploidies, although challenging, has
been achieved through the implementation of novel methodologies such as methylated DNA …

The diagnosis pattern of mid-trimester fetal chromosomal aneuploidy in Xuzhou and the clinical applications

Y Fang, G Wang, C Wang, F Suo, M Gu… - Cell biochemistry and …, 2015 - Springer
The objective of this study is to explore the diagnosis pattern of mid-trimester fetal
chromosomal aneuploidy and its clinical applications. A large group of pregnant women (18 …

Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing

G Koumbaris, E Kypri, K Tsangaras… - US Patent …, 2021 - Google Patents
The invention provides methods for non-invasive prenatal testing that allow for detecting risk
of chromosomal and subchromosomal abnormalities, including but not limited to …