Cell-free DNA (cfDNA) in the circulating blood plasma of patients with cancer contains
tumour-derived DNA sequences that can serve as biomarkers for guiding therapy, for the …

Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …

Plasma consists of DNA released from multiple tissues within the body. Using genome-wide
bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with …

Objectives To estimate procedure‐related risks of miscarriage following amniocentesis and
chorionic villus sampling (CVS) based on a systematic review of the literature and a meta …

Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

Cell-free DNA (cfDNA) is a widely used noninvasive biomarker for diagnosis and prognosis
of multiple disease states. Emerging evidence suggests that cfDNA might not just be passive …

Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down,
Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting …

Background In high-risk pregnant women, noninvasive prenatal testing with the use of
massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately …

Plasma of cancer patients contains cell-free tumor DNA that carries information on tumor
mutations and tumor burden. Individual mutations have been probed using allele-specific …

Objectives To report the clinical performance of massively parallel sequencing‐based non‐
invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical …