The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made (Q38099617)

28 August 2017

title

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made (English)

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28 August 2017

Angela Barrett

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Nicholas Lench

object named as

Nicholas Lench

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Lyn S Chitty

object named as

Lyn S Chitty

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author name string

Sarah Fielding

3

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28 August 2017

Fiona McKay

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Melissa Hill

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Lucy Jenkins

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Helen White

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publication date

1 June 2013

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volume

33

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28 August 2017

issue

6

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28 August 2017

page(s)

555-562

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

28 August 2017

cites work

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Non-invasive prenatal determination of fetal sex: translating research into clinical practice

21 January 2018

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Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

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Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia

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Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.

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Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report

21 January 2018

1 reference

Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay

21 January 2018

1 reference

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

21 January 2018

1 reference

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma

21 January 2018

1 reference

Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma

21 January 2018

1 reference

Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.

21 January 2018

1 reference

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

21 January 2018

1 reference

Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases

21 January 2018

1 reference

Development and application of a real-time quantitative PCR for prenatal detection of fetal alpha(0)-thalassemia from maternal plasma.

21 January 2018

1 reference

Prenatal diagnosis of homozygous alpha-thalassemia-1 by cell-free fetal DNA in maternal plasma.

21 January 2018

1 reference

Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma

21 January 2018

1 reference

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

21 January 2018

1 reference

Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR.

21 January 2018

1 reference

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

21 January 2018

1 reference

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

21 January 2018

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New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

21 January 2018

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Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy

21 January 2018

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Molecular prenatal diagnosis: the impact of modern technologies.

21 January 2018

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Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

21 January 2018

1 reference

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

21 January 2018

1 reference

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.

21 January 2018

1 reference

Dysplastic and polycystic kidneys: diagnosis, associations and management

21 January 2018

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Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing

21 January 2018

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

21 January 2018

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Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies

21 January 2018

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

21 January 2018

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Reliability of fetal sex determination using maternal plasma.

21 January 2018

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Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis.

21 January 2018

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Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis

21 January 2018

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The effect of DYS-14 copy number variations on extracellular fetal DNA quantification in maternal circulation

21 January 2018

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Restriction enzyme-mediated enhanced detection of circulating cell-free fetal DNA in maternal plasma

21 January 2018

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Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR.

21 January 2018

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Feasibility of fetal-derived hypermethylated RASSF1A sequence quantification in maternal plasma--next step toward reliable non-invasive prenatal diagnostics

21 January 2018

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High-throughput droplet digital PCR system for absolute quantitation of DNA copy number

21 January 2018

1 reference

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

21 January 2018

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

21 January 2018

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Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield

21 January 2018

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Cell-free fetal DNA in specimen from pregnant women is stable up to 5 days.

21 January 2018

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Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast.

21 January 2018

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Quantitative and sensitive detection of rare mutations using droplet-based microfluidics

21 January 2018

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Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device

21 January 2018

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SAFE--the Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements

21 January 2018

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Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

21 January 2018

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Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection

21 January 2018

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Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England

21 January 2018

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Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

21 January 2018

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Prenatal exclusion of β thalassaemia major by examination of maternal plasma

21 January 2018

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Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PD.4124

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28 August 2017

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