Related references
Note: Only part of the references are listed.ACMG statement on noninvasive prenatal screening for fetal aneuploidy
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NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy
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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
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Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
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AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2012)
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
Brigitte H. W. Faas et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2012)
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Glenn E. Palomaki et al.
GENETICS IN MEDICINE (2012)
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
Diana W. Bianchi et al.
OBSTETRICS AND GYNECOLOGY (2012)
Noninvasive Prenatal Testing for Fetal Aneuploidy
[Anonymous]
OBSTETRICS AND GYNECOLOGY (2012)
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
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PRENATAL DIAGNOSIS (2012)
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
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PRENATAL DIAGNOSIS (2012)
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
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PRENATAL DIAGNOSIS (2012)
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
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Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
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Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood
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CLINICAL CHEMISTRY (2011)
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
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GENETICS IN MEDICINE (2011)
Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
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PLOS ONE (2011)
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Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
Rossa W. K. Chiu et al.
BMJ-BRITISH MEDICAL JOURNAL (2011)
Fast and accurate short read alignment with Burrows-Wheeler transform
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BIOINFORMATICS (2009)
Prenatal Screening for Aneuploidy
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NEW ENGLAND JOURNAL OF MEDICINE (2009)
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Rossa W. K. Chiu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Maternal age-specific fetal loss rates in Down syndrome pregnancies
George M. Savva et al.
PRENATAL DIAGNOSIS (2006)
Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi
FR Grati et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2006)
First-trimester or second-trimester screening, or both, for Down's syndrome
FD Malone et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Detection of the placental epigenetic signature of the maspin gene in maternal plasma
SSC Chim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism
H Masuzaki et al.
JOURNAL OF MEDICAL GENETICS (2004)
Revised estimates of the maternal age specific live birth prevalence of Down's syndrome
JK Morris et al.
JOURNAL OF MEDICAL SCREENING (2002)