Non-invasive prenatal testing for aneuploidy: current status and future prospects (Q38114375)

29 August 2017

title

Non-invasive prenatal testing for aneuploidy: current status and future prospects (English)

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29 August 2017

P Benn

1

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29 August 2017

H Cuckle

series ordinal

2

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29 August 2017

E Pergament

series ordinal

3

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29 August 2017

publication date

1 July 2013

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Ultrasound in Obstetrics and Gynecology

29 August 2017

published in

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29 August 2017

volume

42

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29 August 2017

issue

1

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29 August 2017

page(s)

15-33

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Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

29 August 2017

cites work

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Changes in the utilization of prenatal diagnosis

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Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks

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Presence of fetal DNA in maternal plasma and serum

21 January 2018

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Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

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Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma

21 January 2018

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Early detection of cell-free fetal DNA in maternal plasma.

21 January 2018

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Size distributions of maternal and fetal DNA in maternal plasma.

21 January 2018

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Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms

21 January 2018

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Rapid clearance of fetal DNA from maternal plasma

21 January 2018

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mRNA of placental origin is readily detectable in maternal plasma.

21 January 2018

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Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint

21 January 2018

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Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center

21 January 2018

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Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

21 January 2018

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International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used.

21 January 2018

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Quantitative fluorescence PCR analysis of >40,000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X.

21 January 2018

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Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y.

21 January 2018

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Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment

21 January 2018

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Chromosomal microarray versus karyotyping for prenatal diagnosis

21 January 2018

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Randomised controlled trial of genetic amniocentesis in 4606 low-risk women

21 January 2018

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Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal Circulation

21 January 2018

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Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities

21 January 2018

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Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies

21 January 2018

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Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

21 January 2018

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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

21 January 2018

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Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood

21 January 2018

1 reference

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

21 January 2018

1 reference

Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics

21 January 2018

1 reference

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

21 January 2018

1 reference

Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21.

21 January 2018

1 reference

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

21 January 2018

1 reference

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.

21 January 2018

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Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

21 January 2018

1 reference

Non-Invasive Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms

21 January 2018

1 reference

Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

21 January 2018

1 reference

Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA

21 January 2018

1 reference

Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach.

21 January 2018

1 reference

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21.

21 January 2018

1 reference

MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.

21 January 2018

1 reference

Detection of aneuploidy with digital polymerase chain reaction

21 January 2018

1 reference

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

21 January 2018

1 reference

Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

21 January 2018

1 reference

Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility

21 January 2018

1 reference

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

21 January 2018

1 reference

A novel method to identify syncytiotrophoblast-derived RNA products representative of trisomy 21 placental RNA in maternal plasma

21 January 2018

1 reference

Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing

21 January 2018

1 reference

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.

21 January 2018

1 reference

A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood

21 January 2018

1 reference

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

21 January 2018

1 reference

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

21 January 2018

1 reference

Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

21 January 2018

1 reference

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.

21 January 2018

1 reference

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

21 January 2018

1 reference

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

21 January 2018

1 reference

Clinical utility of noninvasive fetal trisomy (NIFTY) test--early experience.

21 January 2018

1 reference

Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method

21 January 2018

1 reference

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

21 January 2018

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Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies.

21 January 2018

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The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy

21 January 2018

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Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma

21 January 2018

1 reference

Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y.

21 January 2018

1 reference

Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis.

21 January 2018

1 reference

Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing

21 January 2018

1 reference

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

21 January 2018

1 reference

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies

21 January 2018

1 reference

Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis

21 January 2018

1 reference

First- and second-trimester evaluation of risk for Down syndrome

21 January 2018

1 reference

Cost-effectiveness of Down syndrome screening paradigms

21 January 2018

1 reference

First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing

21 January 2018

1 reference

Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population

21 January 2018

1 reference

Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.

21 January 2018

1 reference

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

21 January 2018

1 reference

Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis

21 January 2018

1 reference

A physical map of the human Y chromosome

21 January 2018

1 reference

X chromosome loss and ageing

21 January 2018

1 reference

Aging and aneuploidy: evidence for the preferential involvement of the inactive X chromosome

21 January 2018

1 reference

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype

21 January 2018

1 reference

Aberrant recombination and the origin of Klinefelter syndrome

21 January 2018

1 reference

To err (meiotically) is human: the genesis of human aneuploidy

21 January 2018

1 reference

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies.

21 January 2018

1 reference

Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma

21 January 2018

1 reference

Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992

21 January 2018

1 reference

Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3.

21 January 2018

1 reference

Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome.

21 January 2018

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A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies

21 January 2018

1 reference

Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism

21 January 2018

1 reference

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

21 January 2018

1 reference

Noninvasive prenatal molecular karyotyping from maternal plasma

21 January 2018

1 reference

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

21 January 2018

1 reference

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

21 January 2018

1 reference

Clinical diagnosis by whole-genome sequencing of a prenatal sample

21 January 2018

1 reference

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

21 January 2018

1 reference

Noninvasive whole-genome sequencing of a human fetus.

21 January 2018

1 reference

Non-invasive prenatal measurement of the fetal genome

21 January 2018

1 reference

Ultrasonographic assessment of placental abnormalities

21 January 2018

1 reference

Second trimester maternal serum analytes in triploid pregnancies: correlation with phenotype and sex chromosome complement

21 January 2018

1 reference

Noninvasive prenatal diagnosis of a fetal microdeletion syndrome

21 January 2018

1 reference

Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma

21 January 2018

1 reference

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

21 January 2018

1 reference

Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors

21 January 2018

1 reference

Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma

21 January 2018

1 reference

NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy

21 January 2018

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ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

21 January 2018

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Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

21 January 2018

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Ethical challenges in providing noninvasive prenatal diagnosis

21 January 2018

1 reference

Non-invasive prenatal testing: ethical issues explored

21 January 2018

1 reference

At-home fetal DNA gender testing: caveat emptor

21 January 2018

1 reference

Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations

21 January 2018

1 reference

Systematic Search for Placental DNA-Methylation Markers on Chromosome 21: Toward a Maternal Plasma-Based Epigenetic Test for Fetal Trisomy 21

21 January 2018

1 reference

Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism

21 January 2018

1 reference

Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/UOG.12513

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29 August 2017

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