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Noninvasive fetal genomic, methylomic, and transcriptomic analyses using maternal plasma and clinical implications
1Li 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.
Trends in Molecular Medicine
|January 26, 2015
Summary
Noninvasive prenatal testing (NIPT) advances enable fetal genetic analysis from maternal blood. New methods allow detection of chromosomal abnormalities, single-gene disorders, and even fetal methylome and transcriptome sequencing.
Area of Science:
- Genomics
- Molecular Biology
- Prenatal Diagnostics
Background:
- Cell-free fetal DNA (cfDNA) in maternal plasma enables noninvasive prenatal testing (NIPT).
- Advances in single-molecule counting have led to robust cfDNA analysis methods.
- NIPT is a rapidly adopted genomic test used globally.
Purpose of the Study:
- To review the advancements in noninvasive prenatal testing using cell-free fetal DNA.
- To highlight the expanding capabilities of NIPT beyond aneuploidy detection.
- To discuss future potential applications in prenatal medicine.
Main Methods:
- Single-molecule counting techniques for cfDNA analysis.
- Whole-genome sequencing of fetal DNA from maternal plasma.
- Targeted sequencing for single-gene disorders.
- Methylome and transcriptome sequencing from maternal plasma.
Main Results:
- Robust methods for NIPT of chromosomal and subchromosomal aberrations are established.
- Fetal whole-genome sequencing and single-gene disorder detection from maternal plasma are feasible.
- Fetal methylome and transcriptome sequencing from maternal plasma have been achieved.
Conclusions:
- Noninvasive prenatal testing has evolved significantly, offering comprehensive fetal genetic analysis.
- Emerging techniques allow for monitoring of fetal physiological and pathological processes.
- These advances promise transformative applications in prenatal medicine.
