Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
Research Institute of Health Sciences · Virginia Commonwealth University · +2 more institutions
Abstract
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, and are associated with a risk of fetal miscarriage. Fetal DNA has been found in maternal plasma but exists as a minor fraction among a high background of maternal DNA. Hence, quantitative perturbations caused by an aneuploid chromosome in the fetal genome to the overall representation of sequences from that chromosome in maternal plasma would be small. Even with highly precise single molecule counting methods such as digital PCR, a large number of DNA molecules and hence maternal plasma volume would need to…
Citation impact
- FWCI
- 55.82
- Percentile
- 100%
- References
- 32
Authors
14Topics & keywords
- Massive parallel sequencing
- Trisomy
- Aneuploidy
- Prenatal diagnosis
- Cell-free fetal DNA
- Amniocentesis
- Chorionic villus sampling
- Biology
- Good health and well-being