Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing.
Noninvasive prenatal testing (NIPT) utilizes cell-free fetal DNA (cffDNA) present in maternal peripheral blood to detect chromosomal abnormalities. The detection of 21-trisomy, 18-trisomy, and 13-trisomy in the fetus has become a common screening method during pregnancy and has been widely applied i...
| Publicado en: | Critical Reviews in Clinical Laboratory Sciences Vol. 56; no. 6; pp. 374 - 393 |
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| Autores principales: | , , , |
| Formato: | pictorial review tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
Sep2019
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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=138399822&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 138399822 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10408363 1AV jtl: Critical Reviews in Clinical Laboratory Sciences issn: 10408363 maglogo: Y pubinfo: dt: Sep2019 vid: 56 iid: 6 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 138399822 138399822 138399822 10.1080/10408363.2019.1631749 138399822 ppf: 374 ppct: 19 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing. aug: au: Shi, Jiping Zhang, Runling Li, Jinming Zhang, Rui affil: Peking University Fifth School of Clinical Medicine, National Center for Clinical Laboratories, National Center of Gerontology, Beijing Hospital, Beijing, China sug: subj: Biological Markers Blood Fetal Blood Analysis DNA Prenatal Diagnosis Methods Noninvasive Procedures Aneuploidy Diagnosis Polymorphism, Genetic Hereditary Diseases Diagnosis Genetic Screening Methods Attitude of Health Personnel Medical Practice, Evidence-Based Sensitivity and Specificity Predictive Value of Tests Diagnosis, Laboratory Practice Guidelines Fetus Physicians Scientists Research, Medical Information Resources Fetus, conception to birth ab: Noninvasive prenatal testing (NIPT) utilizes cell-free fetal DNA (cffDNA) present in maternal peripheral blood to detect chromosomal abnormalities. The detection of 21-trisomy, 18-trisomy, and 13-trisomy in the fetus has become a common screening method during pregnancy and has been widely applied in routine clinical testing because of its analytical and clinical validity. Currently, noninvasive prenatal testing involving copy number variations (CNVs) and other frequent single-gene disorders is being widely studied, and it plays an important and indispensable role in prenatal detection. The multiple approaches that have been reported and validated by various laboratories have different merits and limitations. Their clinical validity, utility, and application vary with different diseases. This review summarizes the principles, methods, advantages, and limitations of noninvasive prenatal testing for the detection of aneuploidy, CNVs and single-gene disorders. Before implementation of NIPT into clinical practice, a list of criteria that the application must meet is crucial. Essential parameters such as clinical sensitivity, clinical specificity, positive predictive value (PPV) and negative predictive value (NPV) are required to properly evaluate the clinical validity and utility of NIPT. We then discuss and analyze these clinical parameters and clinical application guidelines, providing physicians and scientists with feasible strategies and the latest research information. pubtype: Academic Journal doctype: pictorial review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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