Screening of Fetal Chromosomal Aneuploidy by Noninvasive Prenatal Testing: From Innovation to Setting Public Health Agendas to Potential Impact on Other Fields

[...]it was an exciting development when my group and Stephen Quake's group at Stanford reported in 2007 that a single molecular counting approach such as digital PCR could be used to detect the presence of an increased dosage of chromosome 21 in a cell-free system such as maternal plasma (3, 4...

Full description

Saved in:
Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 2020-01, Vol.66 (1), p.25-28
Main Author: Dennis Lo, Y M
Format: Article
Language:English
Subjects:
Aneuploidy
Blood plasma
Cell-free system
Chromosome 21
Chromosomes
Deoxyribonuclease
Deoxyribonucleic acid
Diagnostic systems
Diagnostic tests
DNA
DNA methylation
Fetuses
Nuclease
Plasma
Pregnant women
Public health
Screening
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:[...]it was an exciting development when my group and Stephen Quake's group at Stanford reported in 2007 that a single molecular counting approach such as digital PCR could be used to detect the presence of an increased dosage of chromosome 21 in a cell-free system such as maternal plasma (3, 4). [...]some workers in the field have questioned the clinical utility of expanding NIPT to include such aberrations (13).In the future this likely will be an area of ongoing debate, accompanied by technological improvements. [...]in the context of aneuploidy detection, it can be argued that cell-free NIPT will always be a screening test and will require confirmation using a diagnostic test. Because DNASE1 was thought to be a major nuclease that is present in human plasma, early studies in my laboratory focused on the plasma DNA of mice in which the deoxyribonuclease 1 (Dnase1)3 gene had been knocked out.
ISSN:0009-9147
1530-8561
DOI:10.1373/clinchem.2019.303230