title: Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications.
abstract: The discovery of cell-free fetal DNA in maternal plasma opened up new possibilities for noninvasive prenatal testing (NIPT). Conceptual advances in single-molecule counting have resulted in robust methods for the NIPT of fetal chromosomal aneuploidies and subchromosomal aberrations. Such methods are employed worldwide and are among the most rapidly adopted genomic tests. Furthermore, approaches for fetal whole-genome sequencing from maternal plasma, as well as for targeted detection of many single-gene disorders, have been reported. Recently, fetal methylome and transcriptome sequencing from maternal plasma have also been achieved, potentially allowing fetal physiological and pathological processes to be monitored noninvasively using maternal blood. These advances herald exciting future applications in prenatal medicine.
authors.affiliation: Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China.
authors.forename: Ada I C
authors.initials: AI
authors.lastname: Wong
authors.affiliation: Li Ka Shing Institute of Health Sciences and Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR, China. Electronic address: loym@cuhk.edu.hk.
authors.forename: Y M Dennis
authors.initials: YM
authors.lastname: Lo
mesh_terms: D019175:DNA Methylation; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism; D023281:Genomics; D006801:Humans; D011247:Pregnancy / Q000097:blood* / Q000235:genetics; D011296:Prenatal Diagnosis; D059467:Transcriptome
keywords: cell-free DNA; fetal epigenome; fetal transcriptome; massively parallel sequencing; noninvasive prenatal diagnosis