Abstract:
OBJECTIVES:Non-invasive prenatal aneuploidy testing (NIPT) by next-generation sequencing of circulating cell-free DNA in maternal plasma relies on chromosomal ratio (chrratio) measurements to detect aneuploid values that depart from euploid ratios. Diagnostic performances are known to depend on the fraction of fetal DNA (FF) present in maternal plasma, although how this translates into specific quantitative changes in specificity/positive predictive values and which other variables might also be important is not well understood. DESIGN & METHODS:To explore this issue, theoretical relationships between FF and various measures of diagnostic performances were assessed for a range of parameter values. Empirical data from three NIPT assays were then used to validate theoretical calculations. RESULTS:For a given positivity threshold, dramatic changes in specificity and positive predictive values (PPV) as a function of both FF and the coefficient of variation (CV) of the chrratio measurement were observed. Theoretically predicted and observed chrratio z-scores agreed closely, confirming the determinant impact of small changes in both FF and chrratio CV. CONCLUSIONS:Evaluation of NIPT assay performances therefore requires knowledge of the FF distribution in the population in which the test is intended to be used and, in particular, of the precise value of the assay chrratio CV for each chromosome or genomic region of interest. Laboratories offering NIPT testing should carefully measure these parameters to ensure test reliability and clinical usefulness in interpreting individual patients' results.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Blais J,Giroux S,Caron A,Clément V,Dionne-Laporte A,Jouan L,Gauthier J,MacLeod T,Moore R,Parker J,Swanson L,Zhao Y,Rouleau G,Karsan A,Langlois S,Rousseau Fdoi
10.1016/j.clinbiochem.2018.06.015subject
Has Abstractpub_date
2018-09-01 00:00:00pages
69-77eissn
0009-9120issn
1873-2933pii
S0009-9120(18)30491-0journal_volume
59pub_type
杂志文章abstract:OBJECTIVES:Bilirubin exerts anti-oxidative and anti-inflammatory properties which may beneficially influence the development of cardio-metabolic disorders. A nuclear magnetic resonance (NMR) spectroscopy-based glycoprotein biomarker, designated GlycA, whose signal originates from several glycosylated acute-phase protei...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.06.016
更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:Effects of metamizol and magnesium sulfate on erythrocyte glucose 6-phosphate dehydrogenase enzyme activity were investigated in in vitro and in vivo conditions. METHODS:For in vitro studies, glucose 6-phosphate dehydrogenase was purified from human erythrocyte and rats were used for in vivo studies. Enzyme ...
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doi:10.1016/s0009-9120(01)00207-7
更新日期:2001-06-01 00:00:00
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journal_title:Clinical biochemistry
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doi:10.1016/j.clinbiochem.2010.07.003
更新日期:2010-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.05.015
更新日期:2011-08-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.12.018
更新日期:2011-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.06.983
更新日期:2011-10-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(93)80009-j
更新日期:1993-12-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.07.011
更新日期:2009-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2017.05.018
更新日期:2017-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(76)80072-0
更新日期:1976-12-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,多中心研究
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更新日期:2020-07-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.05.004
更新日期:2014-09-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/s0009-9120(83)94381-3
更新日期:1983-02-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.02.002
更新日期:2005-06-01 00:00:00
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journal_title:Clinical biochemistry
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doi:10.1016/j.clinbiochem.2008.12.009
更新日期:2009-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2003.11.009
更新日期:2004-03-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(76)80059-8
更新日期:1976-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/0009-9120(94)00083-8
更新日期:1995-06-01 00:00:00
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journal_title:Clinical biochemistry
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doi:10.1016/j.clinbiochem.2016.01.014
更新日期:2016-05-01 00:00:00
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doi:10.1016/j.clinbiochem.2013.10.028
更新日期:2013-12-01 00:00:00
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doi:10.1016/j.clinbiochem.2013.08.023
更新日期:2013-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.06.004
更新日期:2015-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(99)00039-9
更新日期:1999-08-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,多中心研究
doi:10.1016/j.clinbiochem.2016.12.006
更新日期:2017-05-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.03.019
更新日期:2009-07-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(80)90562-7
更新日期:1980-02-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.10.020
更新日期:2013-01-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.11.011
更新日期:2014-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/j.clinbiochem.2018.02.012
更新日期:2018-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.03.007
更新日期:2015-06-01 00:00:00