COFFEE: control-free noninvasive fetal chromosomal examination using maternal plasma DNA.
Objective: The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions.Results: We developed the control-free noninvasiv...
| Publicado en: | Prenatal Diagnosis Vol. 37; no. 4; pp. 336 - 341 |
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| Autores principales: | , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Apr2017
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=122406243&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 122406243 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01973851 O9F jtl: Prenatal Diagnosis issn: 01973851 maglogo: Y pubinfo: dt: Apr2017 vid: 37 iid: 4 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 122406243 122406243 NLM28165140 122406243 10.1002/pd.5016 NLM28165140 122406243 ppf: 336 ppct: 5 formats: tig: atl: COFFEE: control-free noninvasive fetal chromosomal examination using maternal plasma DNA. aug: au: Sun, Kun Chan, K. C. Allen Hudecova, Irena Chiu, Rossa W. K. Lo, Y. M. Dennis Jiang, Peiyong affil: Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin NT, Hong Kong sug: subj: Cytogenetic Analysis Methods Prenatal Diagnosis Methods DNA Blood Sequence Analysis Methods Chromosome Aberrations Female Pregnancy Aneuploidy Human Fetus Fetus, conception to birth Female ab: Objective: The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions.Results: We developed the control-free noninvasive fetal chromosomal examination (COFFEE) algorithm by utilizing the size differences between the fetally derived and maternally derived DNA molecules in maternal plasma. We applied COFFEE on three datasets generated in different experimental settings. COFFEE showed 100% accuracy in trisomy 21 testing on these datasets. In contrast, samples analyzed using an existing control-based z-score method would introduce a false-positive result because of batch-to-batch variation, when the tested samples were analyzed using control samples from other batches. We believe that COFFEE is useful for enhancing the cost-effectiveness of noninvasive fetal chromosomal aneuploidy testing particularly in laboratories with small caseloads. Source code and testing datasets for COFFEE are available for download at http://www.cuhk.edu.hk/med/cpy/Research/COFFEE/.Conclusion: Control-free noninvasive fetal chromosomal examination is demonstrated to be a versatile data analysis approach and could enhance the application of noninvasive fetal chromosomal aneuploidy detection. © 2017 John Wiley & Sons, Ltd. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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