2011 January
Non-invasive prenatal assessment of
trisomy 21 by multiplexed maternal
plasma DNA sequencing: large scale
validity study.
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.
2011 June
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.
2012 April
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.
2012 August
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.
2012 December
Clinical application of massively parallel sequencing-based prenatal noninvasive
fetal trisomy test for trisomies 21 and
18 in 11,105 pregnancies with mixed
risk factors.
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.
2012 December
Prenatal detection of aneuploidy and imbalanced chromosomal arrangements
by massively parallel sequencing.
Fetal chromosomal abnormalities are the most common reasons for invasive prenatal testing.
2012 December
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.
2013 March
Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in
twin pregnancies.
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.
2013 May
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.
2013 June
Discordant results between fetal
karyotyping and non-invasive prenatal
testing by maternal plasma sequencing
in a case of uniparental disomy 21 due to
trisomic rescue.
Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported.
2013 June
Secondary findings from non-invasive prenatal
testing for common fetal aneuploidies by
whole genome
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.
2013 June
Effective Noninvasive Zygosity
Determination by Maternal Plasma Target
Region Sequencing
Currently very few noninvasive molecular genetic approaches are available to determine zygosity for twin pregnancies in clinical laboratories.
2013 June
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.
2014 April
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.
2014 September
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.
2015 May
Non-invasive prenatal testing for trisomies
21, 18 and 13: clinical experience from
146,958 pregnancies.
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