Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci (Q24632266)

1

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Matthew Hill

2

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George Gemelos

3

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Zachary Demko

4

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Milena Banjevic

5

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Johan Baner

6

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Allison Ryan

7

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Styrmir Sigurjonsson

8

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Nikhil Chopra

9

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Michael Dodd

10

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Brynn Levy

11

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Matthew Rabinowitz

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

12

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language of work or name

English

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publication date

December 2012

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published in

Prenatal Diagnosis

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volume

32

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issue

13

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page(s)

1233-41

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cites work

1 reference

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

7 April 2017

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

7 April 2017

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A copy number variation morbidity map of developmental delay

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Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

7 April 2017

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

7 April 2017

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Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

27 September 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

27 September 2017

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

27 September 2017

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Origins and rates of aneuploidy in human blastomeres

27 September 2017

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

27 September 2017

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Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles

27 September 2017

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Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass

27 September 2017

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Circulating cell-free DNA levels increase variably following chorionic villus sampling.

27 September 2017

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Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol

27 September 2017

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Personalized copy number and segmental duplication maps using next-generation sequencing.

27 September 2017

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

27 September 2017

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Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis

27 September 2017

1 reference

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Prenatal diagnosis: progress through plasma nucleic acids

27 September 2017

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Analysis of fetal blood cells in the maternal circulation: challenges, ongoing efforts, and potential solutions.

27 September 2017

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Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study.

27 September 2017

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Antenatal screening for Down's syndrome.

27 September 2017

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The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities

27 September 2017

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The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abno

27 September 2017

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

27 September 2017

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A cytogenetic and molecular study of a series of 45,X fetuses and their parents

27 September 2017

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

27 September 2017

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Chorionic villi sampling changes maternal serum alpha-fetoprotein.

30 May 2018

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First-trimester or second-trimester screening, or both, for Down's syndrome

30 May 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

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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

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Significance of the volume of fetomaternal hemorrhage after performing prenatal invasive tests

21 January 2018

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21 January 2018

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Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994

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12 December 2020

Effect of prenatal ultrasound screening on perinatal outcome. RADIUS Study Group

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12 December 2020

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

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12 December 2020

Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18

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12 December 2020

Cell-free fetal DNA in maternal circulation after amniocentesis

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12 December 2020

Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy

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12 December 2020

Feto-maternal transfusion after chorionic villus sampling. Evaluation by maternal serum alphafetoprotein measurement

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12 December 2020

Cytogenetic results from the U.S. Collaborative Study on CVS

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12 December 2020

Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report.

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12 December 2020

Identifiers

DOI

10.1002/PD.3993

1 reference

1 reference

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PubMed publication ID

23108718

1 reference