Abstract:
BACKGROUND:Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma. Sequencing analysis of such ccf DNA has been shown to enable accurate prenatal detection of fetal aneuploidies, including trisomies of chromosomes 21, 18, and 13. We sought to extend these analyses to examine subchromosomal copy number variants through the sequencing of ccf DNA. We examined a clinically relevant genomic region, chromosome 22q11.2, the location of a series of well-characterized deletion anomalies that cause 22q11.2 deletion syndrome. METHODS:We sequenced ccf DNA isolated from maternal plasma samples obtained from 2 patients with confirmed 22q11.2 deletion syndrome and from 14 women at low risk for fetal chromosomal abnormalities. The latter samples were used as controls, and the mean genomic coverage was 3.83-fold. Data were aligned to the human genome, repetitive regions were removed, the remaining data were normalized for GC content, and z scores were calculated for the affected region. RESULTS:The median fetal DNA contribution for all samples was 18%, with the affected samples containing 17%-18% fetal DNA. Using a technique similar to that used for sequencing-based fetal aneuploidy detection from maternal plasma, we detected a statistically significant loss of representation of a portion of chromosome 22q11.2 in both of the affected fetal samples. No such loss was detected in any of the control samples. CONCLUSIONS:Noninvasive prenatal diagnosis of subchromosomal fetal genomic anomalies is feasible with next-generation sequencing.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Jensen TJ,Dzakula Z,Deciu C,van den Boom D,Ehrich Mdoi
10.1373/clinchem.2011.180794subject
Has Abstractpub_date
2012-07-01 00:00:00pages
1148-51issue
7eissn
0009-9147issn
1530-8561pii
clinchem.2011.180794journal_volume
58pub_type
杂志文章abstract::Patients' sera were analyzed for carbamazepine and ethosuximide by enzyme immunoassay (x) and gas chromatography (y), and the results were compared. The correlation coefficients were: for carbamazepine, x vs. y 0.94 (n = 93); for ethosuximide, x vs. y 0.99 (n = 30). These results suggest that the two methods could be ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
abstract::gamma-Aminobutyric acid (GABA), an inhibitory neurotransmitter that serves about one-third of brain neurons, is involved in the development of depression and in the treatment of depression and mania with pharmacological therapy. Brain activity of GABA may be conveniently measured in plasma, and changes in plasma conce...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1994-02-01 00:00:00
abstract::Determination of the MB isoenzyme of creatine kinase in patients with acute myocardial infarction may be disturbed by the presence of macro creatine kinase. The relative molecular mass of this form of creatine kinase in human serum is at least threefold that of the ordinary enzyme, and it is more thermostable. Here we...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract::We describe a new multilayer immunoassay element for the determination of haptens in undiluted serum and plasma. Polysaccharide layers are coated onto a plastic base. The signal layer contains an immobilized antibody and a fluorescent-labeled hapten. A second layer, containing a pigment, acts as an optical screen. Sam...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1989-09-01 00:00:00
abstract::Determination of the ratio of testosterone to epitestosterone (T/E) in urine is used to detect testosterone administration in athletes, with a ratio > 6 considered as evidence of an offense. We show that administration of ketoconazole, which inhibits testosterone biosynthesis, may be useful for differentiating between...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1993-09-01 00:00:00
abstract::A number of immunological techniques--radioimmunoassay, enzyme-linked immunosorbent assay (ELISA), electroimmunoassay, radial immunodiffusion, and a variety of immunoprecipitin assays--have been used to quantify apolipoproteins in plasma. This paper outlines their technical details and discusses their major advantages...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1990-04-01 00:00:00
abstract::We describe a new liquid-chromatographic method with fluorescence detection for direct simultaneous determination of four urinary sulfate conjugates of 17-oxosteroids (17OS), without use of solvolysis or enzymatic hydrolysis. The 17OS sulfates in urine samples are extracted with benzene as ion pairs in the presence of...
journal_title:Clinical chemistry
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doi:
更新日期:1986-05-01 00:00:00
abstract::We measured immunoglobulins in the sera of 33 patients on days 1, 3, 6, 10, and 17 and three to four weeks after surgical operations (mostly hysterectomy or appendectomy) or (six patients) after spinal injury. In the absence of infection or blood transfusion, IgG usually decreased slightly and transiently after hyster...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1975-05-01 00:00:00
abstract::We compared cotinine, carboxyhemoglobin, and thiocyanate concentrations in blood sampled from 187 cigarette smokers and 181 non-smokers. All three differed significantly between smokers and non-smokers. Cotinine performed best as a test for assessing smoking status, with a sensitivity of 98% as compared with 94% for c...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-08-01 00:00:00
abstract::This one-dimensional thin-layer chromatographic method is used for assay of phospholipids in the gastric aspirate of newborns. The solvent mixture (chloroform/hexane/methanol/glacial acetic acid/water, 12/7/4/3/0.3 by vol) completely resolves lecithin, sphingomyelin, phosphatidylinositol, phosphatidylserine, phosphati...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-04-01 00:00:00
abstract:BACKGROUND:Our previously developed assay for detection of the factor V Leiden mutation (G1691A) based on a nucleic acid photo-cross-linking technology used two allele-specific capture probes and six fluorescein-modified signal-generating reporter probes. We wished to improve the sensitivity and performance of the meth...
journal_title:Clinical chemistry
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更新日期:2004-02-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1983-04-01 00:00:00
abstract::Serum specimens from patients on primidone therapy were assayed by two currently available procedures: a commercially available enzyme immunoassay (EMIT) and a published gas-chromatographic procedure. Both procedures were done with commercially available materials and equipment. Results by the two procedures agreed we...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1976-06-01 00:00:00
abstract:BACKGROUND:Quantitative, miniaturized nucleic acid assays and immunoassays can be developed with single microparticles, microfluorometric detection, and intrinsically fluorescent lanthanide chelates in a multiple assay format to decrease reagent consumption, cost, and assay time. We used recombinant Fab fragments to ca...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract::Taurine was measured in cerebrospinal fluid by reacting it with fluorescamine to form a fluorescent derivative, followed by separation on a reversed-phase column and fluorometric detection and evaluation. The assay is rapid (17 min) and sensitive to as little as 1 mumol/L. The mean value for 27 cerebrospinal fluid sam...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-08-01 00:00:00
abstract::The commonly used methods of assessing the precision of the automated leukocyte differential have certain drawbacks that affect the validity and comparability of results. In the present report, we introduce a procedure based on building precision profiles from a large number of within-run imprecision experiments. The ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1996-07-01 00:00:00
abstract:BACKGROUND:Serial measurements of neurohormones have been shown to improve prognostication in the setting of acute heart failure (HF) or chronic HF without therapeutic intervention. We investigated the prognostic role of serial measurements of emerging neurohormones and BNP in a cohort of chronic HF patients undergoing...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2009.125856
更新日期:2010-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-06-01 00:00:00
abstract:BACKGROUND:Tamoxifen is a standard endocrine therapy for the prevention and treatment of steroid hormone receptor-positive breast cancer. CONTENT:Tamoxifen requires enzymatic activation by cytochrome P450 (CYP) enzymes for the formation of active metabolites 4-hydroxytamoxifen and endoxifen. As compared with the paren...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:10.1373/clinchem.2008.121756
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:The "unit" for "enzymic activity" (U = 1 micromol/min) was recommended by the International Union of Biochemistry and Molecular Biology (IUB) in 1961 and is widely used in medical laboratory reports. The general trend in metrology, however, is toward global standardization through defining units coherent wit...
journal_title:Clinical chemistry
pub_type: 历史文章,杂志文章
doi:
更新日期:2002-03-01 00:00:00
abstract:BACKGROUND:Little research has been done to examine whether gamma-glutamyltransferase (GGT) is prospectively associated with the development of chronic kidney disease (CKD). We performed a prospective study to examine the association between GGT and the risk for the development of CKD. METHODS:The study cohort include...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2006.078980
更新日期:2007-01-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-10-01 00:00:00
abstract::In this liquid-chromatographic method for the determination of bromide in human serum, an important and unique feature is pre-analysis ultrafiltration of the sample, which effectively removes proteins. The chromatographic system consists of an anion-exchange column (Whatman Partisil SAX 10-micron particles), an isocra...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-05-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-02-01 00:00:00
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journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract:BACKGROUND:Recent reports have described inherent problems with androgen immunoassays compared with mass spectrometry analyses. METHODS:We developed a method for measuring serum testosterone (T) and 5alpha-dihydrotestosterone (DHT) simultaneously via liquid-liquid extraction followed by liquid chromatography-tandem ma...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2008.103846
更新日期:2008-11-01 00:00:00
abstract::A new computer-interfaced system of general applicability in the clinical laboratory has been built. The system is constructed around a new type multicuvette. Quantitation is currently by spectrophotometry and is on-line, with use of a mini-computer with output going to an electrostatic printer/plotter. The system can...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1975-08-01 00:00:00
abstract::Radioimmunoassays for haloperidol are described, involving use of tritium- or 125I-labeled drug or tritium-labeled spiroperidol, and a rabbit antiserum to a drug/bovine serum albumin conjugate. The 125I-labeled drug was prepared by the Chloramine T iodination technique. A fluoroimmunoassay for haloperidol is also desc...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00
abstract::We examined the mechanism by which hypertriglyceridemia interferes with the Roche Diagnostics "Amylochrome" procedure for measurement of amylase in lactescent samples with normal and above-normal amylase activity. The serum blank recommended in the Amylochrome protocol to compensate for lactescence remains inappropria...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1982-10-01 00:00:00
abstract::Use of immunoassays that do not detect endogenous digoxin-like immunoreactive factors (DLIF) in serum significantly improves the between-assay correlation of digoxin results for patients. We investigated five different immunoassay methods (Abbott, Clinical Assays, Corning, Du Pont, and Syva), measuring digoxin by all ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-06-01 00:00:00