Non-invasive prenatal assessment of
trisomy 21 by multiplexed maternal
plasma DNA sequencing: large scale
To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling.
Noninvasive Prenatal Diagnosis of Fetal Trisomy
18 and Trisomy 13 by Maternal Plasma DNA
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21.
Clinical utility of noninvasive fetal trisomy (NIFTY)
test – early experience.
To report the initial experience of noninvasive prenatal diagnosis of fetal Down syndrome (The NIFTY test) in a clinical setting. Methods: The NIFTY test was offered as a screening test for fetal Down syndrome to pregnant women with a singleton pregnancy at 12 weeks of gestation or beyond.
Noninvasive prenatal diagnosis of
common fetal chromosomal aneuploidies
by maternal plasma DNA sequencing.
To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma.
Clinical application of massively parallel sequencing-based prenatal noninvasive
fetal trisomy test for trisomies 21 and
18 in 11,105 pregnancies with mixed
To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China.
Prenatal detection of aneuploidy and imbalanced chromosomal arrangements
by massively parallel sequencing.
Fetal chromosomal abnormalities are the most common reasons for invasive prenatal testing.
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy.
Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in
Non-invasive prenatal screening for fetal Down syndrome (NIFTY) by maternal plasma sequencing was performed in 12 subjects with twin pregnancies, including 11 with normal fetuses and 1 with discordant fetal Trisomy 21.
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy.
Noninvasive prenatal detection of common fetal aneuploidies with cell-free DNA from maternal plasma has been achieved with high-throughput next-generation sequencing platforms.
Discordant results between fetal
karyotyping and non-invasive prenatal
testing by maternal plasma sequencing
in a case of uniparental disomy 21 due to
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported.
Secondary findings from non-invasive prenatal
testing for common fetal aneuploidies by
sequencing as a clinical service.
To report secondary or additional findings arising from introduction of non-invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service.
Effective Noninvasive Zygosity
Determination by Maternal Plasma Target
Currently very few noninvasive molecular genetic approaches are available to determine zygosity for twin pregnancies in clinical laboratories.
A method for noninvasive detection of fetal large deletions/duplications by low
coverage massively parallel sequencing.
To report the feasibility of fetal chromosomal deletion/duplication detection using a novel bioinformatic method of low coverage whole genome sequencing of maternal plasma.
Noninvasive prenatal testing of trisomies 21 and
18 by massively parallel sequencing of maternal
plasma DNA in twin pregnancies.
The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Genetic effects of a 13q31.1 microdeletion
detected by noninvasive prenatal testing (NIPT).
Microdeletions of chromosome 13q31.1 are relatively rare. These types of deletions may cause different genetic effects on genotypes and/or phenotypes.
Non-invasive prenatal testing for trisomies
21, 18 and 13: clinical experience from
To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140,000 clinical samples and to compare its performance in low-risk and high-risk pregnancies. acid