Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin (Q35990077)

11 August 2017

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin (English)

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11 August 2017

1 reference

Sara Perlado

1

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11 August 2017

Ana Bustamante-Aragonés

2

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11 August 2017

Marta Donas

3

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11 August 2017

Isabel Lorda-Sánchez

4

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11 August 2017

Javier Plaza

5

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11 August 2017

Marta Rodríguez de Alba

6

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11 August 2017

language of work or name

English

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publication date

14 April 2016

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11 August 2017

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11 August 2017

11

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11 August 2017

4

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11 August 2017

e0153258

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Creative Commons Attribution 4.0 International

11 August 2017

start time

14 April 2016

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

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Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

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Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

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Quantification of cell-free DNA in normal and complicated pregnancies: overcoming biological and technical issues

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Noninvasive prenatal diagnosis of monogenic disorders

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

2 October 2017

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Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

2 October 2017

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

2 October 2017

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

2 October 2017

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

2 October 2017

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

2 October 2017

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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.

2 October 2017

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

2 October 2017

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

2 October 2017

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

2 October 2017

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

2 October 2017

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

2 October 2017

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Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study

2 October 2017

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Non-invasive fetal sex determination: impact on clinical practice

2 October 2017

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Hypermethylation of RASSF1A in human and rhesus placentas

2 October 2017

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2 October 2017

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Reliability of fetal sex determination using maternal plasma.

2 October 2017

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Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese.

11 July 2018

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

24 September 2018

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

24 September 2018

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Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

24 September 2018

1 reference

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

24 September 2018

1 reference

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Presence of fetal DNA in maternal plasma and serum

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0153258

Prenatal exclusion of β thalassaemia major by examination of maternal plasma

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0153258

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27078875

12 December 2020

Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/27078875

12 December 2020

Prenatal DNA diagnosis of a single-gene disorder from maternal plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/27078875

12 December 2020

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

1 reference

https://pubmed.ncbi.nlm.nih.gov/27078875

12 December 2020

Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/27078875

12 December 2020

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/27078875

12 December 2020

10.1371/JOURNAL.PONE.0153258

Identifiers

DOI

1 reference

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

27078875

1 reference