Complete trisomy 18 syndrome

Known as: E3 Trisomy, Edwards' syndrome, Chromosome 18 trisomy 
A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1963-2017
05010019632017

Papers overview

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Review
2014
Review
2014
OBJECTIVE To assess the relationship between the finding of fetal femur diaphysis length (FL) below the 5(th) percentile at the… (More)
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Highly Cited
2013
Highly Cited
2013
This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard… (More)
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Highly Cited
2012
Highly Cited
2012
Purpose:To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13.Methods:Sixty… (More)
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Highly Cited
2012
Highly Cited
2012
OBJECTIVE We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18… (More)
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Highly Cited
2012
Highly Cited
2012
OBJECTIVE To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on… (More)
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Highly Cited
2012
Highly Cited
2012
OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first… (More)
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Highly Cited
2012
Highly Cited
2012
OBJECTIVE We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21… (More)
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Highly Cited
2010
Highly Cited
2010
BACKGROUND The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual… (More)
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Highly Cited
2008
Highly Cited
2008
We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Screening for aneuploid pregnancies is routinely performed after 15 weeks of gestation and has a sensitivity of… (More)
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