Noninvasive prenatal testing: Advancing through a virtuous circle of science, technology and clinical applications.


Journal

Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540

Informations de publication

Date de publication:
Sep 2021
Historique:
entrez: 29 9 2021
pubmed: 30 9 2021
medline: 15 12 2021
Statut: ppublish

Résumé

Since the discovery of cell-free fetal DNA in maternal blood in 1997, the interplay of basic scientific observations and technological developments have continued to drive new clinical applications in the field. This commentary discusses a number of examples in this virtuous circle of science, technology and clinical applications. MATERIALS & METHODS: Commentary and literature review. One example of technological developments is the detection technologies for detecting circulating DNA, moving from conventional PCR, to real-time PCR, to massively parallel sequencing. One example of basic scientific understanding is the size and fragmentation patterns of circulating DNA. Beyond creating a global paradigm in prenatal medicine, the development of noninvasive prenatal testing has also impacted other areas such as cancer screening and transplantation monitoring. Finally, the commentary looks forward to what might be in store in the next decade.

Sections du résumé

BACKGROUND BACKGROUND
Since the discovery of cell-free fetal DNA in maternal blood in 1997, the interplay of basic scientific observations and technological developments have continued to drive new clinical applications in the field.
AIMS OBJECTIVE
This commentary discusses a number of examples in this virtuous circle of science, technology and clinical applications. MATERIALS & METHODS: Commentary and literature review.
RESULTS RESULTS
One example of technological developments is the detection technologies for detecting circulating DNA, moving from conventional PCR, to real-time PCR, to massively parallel sequencing. One example of basic scientific understanding is the size and fragmentation patterns of circulating DNA.
DISCUSSION CONCLUSIONS
Beyond creating a global paradigm in prenatal medicine, the development of noninvasive prenatal testing has also impacted other areas such as cancer screening and transplantation monitoring. Finally, the commentary looks forward to what might be in store in the next decade.

Identifiants

pubmed: 34585773
doi: 10.1002/pd.5978
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1190-1192

Subventions

Organisme : Li Ka Shing Foundation Hong Kong
ID : Endowed Chair
Organisme : Hong Kong Research Grants Council Theme-Based Research Scheme
ID : T12-403/15N
Organisme : Innovation and Technology Commission Hong Kong
ID : InnoHK scheme

Informations de copyright

© 2021 John Wiley & Sons Ltd.

Références

Lo YMD. Noninvasive prenatal diagnosis in 2020. Prenat Diagn. 2010;30:702-703.
Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485-487.
Lo YMD, Tein MSC, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62:768-775.
Lo YMD, Lun FMF, Chan KCA, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A. 2007;104:13116-13121.
Barrett AN, McDonnell TCR, Chan KCA, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem. 2012;58:1026-1032.
Chiu RWK, Chan KCA, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008;105:20458-20463.
Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105:16266-16271.
Chan KCA, Zhang J, Hui ABY, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004;50:88-92.
Yu SCY, Chan KCA, Zheng YWL, et al. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A. 2014;111:8583-8588.
Chan KCA, Woo JKS, King A, et al. Analysis of plasma Epstein-Barr virus DNA to screen for nasopharyngeal cancer. N Engl J Med. 2017;377:513-522.
Liu MC, Oxnard GR, Klein EA, et al. Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Ann Oncol. 2020;31:745-759.
Cohen JD, Li L, Wang Y, et al. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science. 2018;359:926-930.
Lennon AM, Lennon AM, Buchanan AH, et al. Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention. Science. 2020;369:eabb9601.
Lo YMD, Tein MS, Pang CC, et al. Presence of donor-specific DNA in plasma of kidney and liver-transplant recipients. Lancet. 1998;351:1329-1330.
De Vlaminck I, Valantine HA, Snyder TM, et al. Circulating cell-free DNA enables noninvasive diagnosis of heart transplant rejection. Sci Transl Med. 2014;6:241ra77.
Sun K, Jiang P, Chan KCA, et al. Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments. Proc Natl Acad Sci U S A. 2015;112:E5503-E5512.
Lehmann-Werman R, Neiman D, Zemmour H, et al. Identification of tissue-specific cell death using methylation patterns of circulating DNA. Proc Natl Acad Sci U S A. 2016;113:E1826-E1834.
Gai W, Zhou Z, Agbor-Enoh S, et al. Genetic-epigenetic tissue mapping for plasma DNA: applications in prenatal testing, transplantation and oncology. eLife. 2021;10:e64356.
Lo YMD, Han DSC, Jiang P, Chiu RWK. Epigenetics, fragmentomics and topology of cell-free DNA in liquid biopsies. Science. 2021;372:eaaw3616.
Jiang P, Sun K, Peng W, et al. Plasma DNA end motif profiling as a fragmentomic marker in cancer, pregnancy and transplantation. Cancer Discov. 2020;10:664-673.
Jiang P, Xie T, Ding SC, et al. Detection and characterization of jagged ends of double-stranded DNA in plasma. Genome Res. 2020;30:1144-1153.
Tsang JCH, Vong JSL, Ji L, et al. Integrative single-cell and cell-free plasma RNA transcriptomics elucidates placental cellular dynamics. Proc Natl Acad Sci U S A. 2017;114:E7786-E7795.
Pique-Regi R, Romero R, Tarca AL, et al. Single cell transcriptional signatures of the human placenta in term and preterm parturition. eLife. 2019;8:e52004.

Auteurs

Y M Dennis Lo (YMD)

Centre for Novostics, Hong Kong Science Park, New Territories, Hong Kong SAR, China.
Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, New Territories, Hong Kong SAR, China.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH