Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma

• Published in: Annual review of medicine Vol. 67; no. 1; pp. 419 - 432
• Main Authors: Wong, Felix C.K, Lo, Y.M. Dennis
• Format: Journal Article
• Language: English
• Published: United States Annual Reviews 01-01-2016; Annual Reviews, Inc
• Subjects: Aneuploidy; cell-free DNA; Chromosomes; DNA - blood; DNA Methylation; DNA Mutational Analysis; Fetal Diseases - diagnosis; Fetal Diseases - genetics; Genetic disorders; Genetic Testing - methods; Genome, Human; Genomes; High-Throughput Nucleotide Sequencing; Humans; Innovations; Maternal & child health; Medical diagnosis; methylome; next-generation sequencing; noninvasive prenatal testing; Plasma; Polymorphism, Single Nucleotide; Prenatal development; Prenatal Diagnosis - methods; Transcriptome; cell-free DNA; methylome; next-generation sequencing; noninvasive prenatal testing; transcriptome
• ISSN: 0066-4219; 1545-326X
• DOI: 10.1146/annurev-med-091014-115715

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.