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2011 January Non-invasive prenatal assessment oftrisomy 21 by multiplexed maternalplasma DNA sequencing: large scalevalidity 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. READ

2011 June Noninvasive Prenatal Diagnosis of Fetal Trisomy18 and Trisomy 13 by Maternal Plasma DNASequencing 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. READ

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. READ

2012 August Noninvasive prenatal diagnosis ofcommon fetal chromosomal aneuploidiesby 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. READ

2012 December Clinical application of massively parallel sequencing-based prenatal noninvasivefetal trisomy test for trisomies 21 and18 in 11,105 pregnancies with mixedrisk 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. READ

2012 December Prenatal detection of aneuploidy and imbalanced chromosomal arrangementsby massively parallel sequencing. Fetal chromosomal abnormalities are the most common reasons for invasive prenatal testing. READ

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. READ

2013 March Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing intwin 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. READ

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. READ

2013 June Discordant results between fetalkaryotyping and non-invasive prenataltesting by maternal plasma sequencingin a case of uniparental disomy 21 due totrisomic rescue. Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. READ

2013 June Secondary findings from non-invasive prenataltesting for common fetal aneuploidies bywhole genomesequencing 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. READ

2013 June Effective Noninvasive ZygosityDetermination by Maternal Plasma TargetRegion Sequencing Currently very few noninvasive molecular genetic approaches are available to determine zygosity for twin pregnancies in clinical laboratories. READ

2013 June A method for noninvasive detection of fetal large deletions/duplications by lowcoverage 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. READ

2014 April Noninvasive prenatal testing of trisomies 21 and18 by massively parallel sequencing of maternalplasma 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. READ

2014 September Genetic effects of a 13q31.1 microdeletiondetected 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. READ

2015 May Non-invasive prenatal testing for trisomies21, 18 and 13: clinical experience from146,958 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 READ

Scientific content reviewed by the Bioscience Institute Scientific Board. · Last updated 2019-05-17

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Prenatal & neonatal genomics

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Prenatal screening estimates risk; a positive result is confirmed with a diagnostic test prescribed by your gynaecologist.

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Prenatal & neonatal genomics

Non-invasive prenatal screening from week 10, carrier screening for parents and expanded screening for newborns.

Non-invasive prenatal screening from week 10, validated on 112,669 pregnancies, with carrier screening for parents and expanded screening for newborns in the first days of life.

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