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- Title
Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma.
- Authors
Lee, Da Eun; Kim, Shin Young; Lim, Ji Hyae; Park, So Yeon; Ryu, Hyun Mee
- Abstract
Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this study was to evaluate the accuracy of non-invasive detection of fetal trisomy 18 using the unmethylated-maspin (U-maspin) gene as a cell-free fetal DNA marker and the methylated-maspin (M-maspin) gene as a cell-free total DNA marker in the first trimester of pregnancy.
- Publication
PloS one, 2013, Vol 8, Issue 11, pe78136
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0078136