Article

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

2022-10-13

Abstract excerpt

Abstract Current non-invasive prenatal screening (NIPS) analyzes circulating fetal cell-free DNA (cfDNA) in maternal peripheral blood for selected aneuploidies or microdeletion/duplication syndromes. Many genetic disorders are refractory to NIPS largely because the maternal genetic material constitutes most of the total cfDNA present in the maternal plasma, which hinders the detection of fetus-specific genetic var...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 48959883-b457-5756-9e18-5b97a378ff3c
DOI: 10.1038/s41421-022-00457-4

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screeningDOI 10.1038/s41421-022-00457-4Read

Advances in Prenatal Cell‐Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical ImplementationSemantic proximity Read

Advancements in Prenatal Genetics: Emerging Technologies and Evolving ApplicationsSemantic proximity Read

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Semantic proximity Read

Non-invasive prenatal diagnosis (NIPD): current and emerging technologiesSemantic proximity Read

Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving ApplicationsSemantic proximity Read

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disordersSemantic proximity Read

Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.Semantic proximity Read

Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.Semantic proximity Read

Development and Validation of a Non-invasive cfDNA Assay for Dominant Monogenic Disorders in Pregnancies Stratified by Ultrasound RiskSemantic proximity Read

cfDNA screening and diagnosis of monogenic disorders – where are we heading?Semantic proximity Read

Exploration of cfDNA landscape in NIPT and clinical utilities of cfDNA based gene expression inference in prenatal diagnosticsSemantic proximity Read

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.Semantic proximity Read