Genotyping tumor tissue in search of somatic genetic alterations for actionable information
has become routine practice in clinical oncology. Although these sequence alterations are …

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 …

Non‐invasive prenatal testing (NIPT) for aneuploidy using cell‐free DNA in maternal plasma
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …

DNA methylation patterns are altered in numerous diseases and often correlate with
clinically relevant information such as disease subtypes, prognosis and drug response. With …

OBJECTIVE: The purpose of this study was to assess the prenatal detection rate of trisomy
21 and 18 and the false-positive rate by chromosome-selective sequencing of maternal …

The past decade has seen the development of technologies that have revolutionized
prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide …

Objective To report the performance of massively parallel sequencing (MPS) based prenatal
noninvasive fetal trisomy test based on cell‐free DNA sequencing from maternal plasma in a …

Recent expansion of our knowledge on epigenetic changes strongly suggests that not only
nuclear DNA (nDNA), but also mitochondrial DNA (mtDNA) may be subjected to epigenetic …

Epigenetics refers to a variety of processes that have heritable effects on gene expression
programs without changes in DNA sequence. Key players in epigenetic control are chemical …

Objective: To review clinical validation or implementation studies of maternal blood cell-free
(cf) DNA analysis in screening for aneuploidies and to explore the potential use of this …