Liquid biopsies come of age: towards implementation of circulating tumour DNA

JCM Wan, C Massie, J Garcia-Corbacho… - Nature Reviews …, 2017 - nature.com
Improvements in genomic and molecular methods are expanding the range of potential
applications for circulating tumour DNA (ctDNA), both in a research setting and as a'liquid …

Cell-free DNA and apoptosis: how dead cells inform about the living

E Heitzer, L Auinger, MR Speicher - Trends in molecular medicine, 2020 - cell.com
Cell-free DNA (cfDNA) is evolving into a widely used prognostic and predictive biomarker,
particularly in oncology. However, its versatile clinical use precedes a profound …

The emergence and global spread of noninvasive prenatal testing

V Ravitsky, MC Roy, H Haidar… - Annual review of …, 2021 - annualreviews.org
Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around
the world. It carries numerous benefits but also raises challenges, often related to …

The long and short of circulating cell-free DNA and the ins and outs of molecular diagnostics

P Jiang, YMD Lo - Trends in Genetics, 2016 - cell.com
The discovery of cell-free tumor and fetal DNA molecules in the plasma of cancer patients
and pregnant women, respectively, has opened up exciting opportunities in molecular …

Mechanisms of aneuploidy in human eggs

A Webster, M Schuh - Trends in cell biology, 2017 - cell.com
Eggs and sperm develop through a specialized cell division called meiosis. During meiosis,
the number of chromosomes is reduced by two sequential divisions in preparation for …

The evolving role of genetic tests in reproductive medicine

F Cariati, V D'Argenio, R Tomaiuolo - Journal of translational medicine, 2019 - Springer
Infertility is considered a major public health issue, and approximately 1 out of 6 people
worldwide suffer from infertility during their reproductive lifespans. Thanks to technological …

New perspectives on the importance of cell-free DNA biology

AJ Bronkhorst, V Ungerer, A Oberhofer, S Gabriel… - Diagnostics, 2022 - mdpi.com
Body fluids are constantly replenished with a population of genetically diverse cell-free DNA
(cfDNA) fragments, representing a vast reservoir of information reflecting real-time changes …

Epigenetic biomarkers in cell-free DNA and applications in liquid biopsy

W Gai, K Sun - Genes, 2019 - mdpi.com
Cell-free circulating DNA (cfDNA) in plasma has gained global interest as a diagnostic
material for noninvasive prenatal testing and cancer diagnosis, or the so-called “liquid …

Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences

A Cernat, C De Freitas, U Majid, F Trivedi… - BMC pregnancy and …, 2019 - Springer
Background Non-invasive prenatal testing (NIPT) can be used to accurately detect fetal
chromosomal anomalies early in pregnancy by assessing cell-free fetal DNA present in …

Current overview of osteogenesis imperfecta

M Deguchi, S Tsuji, D Katsura, K Kasahara, F Kimura… - Medicina, 2021 - mdpi.com
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder
characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a …