Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma
| Autor: | Felix C.K. Wong, Y.M. Dennis Lo |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
DNA Mutational Analysis Prenatal diagnosis Biology Bioinformatics Polymorphism Single Nucleotide Genome General Biochemistry Genetics and Molecular Biology DNA sequencing Deep sequencing Transcriptome 03 medical and health sciences 0302 clinical medicine Prenatal Diagnosis medicine Humans Genetic Testing Genetic testing 030219 obstetrics & reproductive medicine Massive parallel sequencing medicine.diagnostic_test Genome Human High-Throughput Nucleotide Sequencing DNA General Medicine DNA Methylation Aneuploidy Fetal Diseases 030104 developmental biology Cell-free fetal DNA |
| Zdroj: | Annual Review of Medicine. 67:419-432 |
| ISSN: | 1545-326X 0066-4219 |
| DOI: | 10.1146/annurev-med-091014-115715 |
| Popis: | Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for clinical use. Moreover, MPS-based NIPT of subchromosomal deletions/duplications and single-gene disorders has also been achieved, and the number of applications is growing. In addition to specific fetal genetic disorders, the whole fetal genome, transcriptome, and methylome have been revealed by deep sequencing of maternal plasma. The analysis of the fetal transcriptome and methylome may yield valuable information on fetal and maternal health. With continued improvement in sequencing technology and reduction in sequencing costs, the analysis of cell-free nucleic acids would play an increasingly important role in prenatal screening, diagnosis, monitoring, and risk stratification of fetal as well as maternal conditions. |
| Databáze: | OpenAIRE |
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