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Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma.

Lee da E, Kim SY, Lim JH, Park SY, Ryu HM - PLoS ONE (2013)

Bottom Line: 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.Median U-maspin concentrations were significantly elevated in women with trisomy 18 fetuses compared with controls (27.2 vs. 6.7 copies/mL; P<0.001).Median M-maspin concentrations were also significantly higher in women with trisomy 18 fetuses than in controls (96.9 vs. 19.5 copies/mL, P<0.001).

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.

ABSTRACT

Background: 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.

Methodology/principal findings: A nested case-control study was conducted using maternal plasma collected from 66 pregnant women, 11 carrying fetuses with trisomy 18 and 55 carrying normal fetuses. Median U-maspin concentrations were significantly elevated in women with trisomy 18 fetuses compared with controls (27.2 vs. 6.7 copies/mL; P<0.001). Median M-maspin concentrations were also significantly higher in women with trisomy 18 fetuses than in controls (96.9 vs. 19.5 copies/mL, P<0.001). The specificities of U-maspin and M-maspin concentrations for non-invasive fetal trisomy 18 detection were 96.4% and 74.5%, respectively, with a sensitivity of 90.9%.

Conclusions: Our results suggest that U-maspin and M-maspin concentrations may be useful as potential biomarkers for non-invasive detection of fetal trisomy 18 in the first trimester of pregnancy, irrespective of the sex and genetic variations of the fetus.

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Related in: MedlinePlus

Bisulfite sequencing of the maspin promoter in first trimester paired placental tissue and maternal blood cells.The red characters in the sequences indicate methylation CpG sites of the maspin gene. Unmethylated CpG sites of maspin were detected only in placental tissue. Methylated CpG sites of maspin were detected in placental tissue and maternal blood cells.
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pone-0078136-g001: Bisulfite sequencing of the maspin promoter in first trimester paired placental tissue and maternal blood cells.The red characters in the sequences indicate methylation CpG sites of the maspin gene. Unmethylated CpG sites of maspin were detected only in placental tissue. Methylated CpG sites of maspin were detected in placental tissue and maternal blood cells.

Mentions: The tissue-specific epigenetic characteristics of the maspin gene revealed by bisulfite sequencing are shown in Figure 1. The maspin gene was relatively hypomethylated in the placenta and completely methylated in maternal blood cells.


Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma.

Lee da E, Kim SY, Lim JH, Park SY, Ryu HM - PLoS ONE (2013)

Bisulfite sequencing of the maspin promoter in first trimester paired placental tissue and maternal blood cells.The red characters in the sequences indicate methylation CpG sites of the maspin gene. Unmethylated CpG sites of maspin were detected only in placental tissue. Methylated CpG sites of maspin were detected in placental tissue and maternal blood cells.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3815335&req=5

pone-0078136-g001: Bisulfite sequencing of the maspin promoter in first trimester paired placental tissue and maternal blood cells.The red characters in the sequences indicate methylation CpG sites of the maspin gene. Unmethylated CpG sites of maspin were detected only in placental tissue. Methylated CpG sites of maspin were detected in placental tissue and maternal blood cells.
Mentions: The tissue-specific epigenetic characteristics of the maspin gene revealed by bisulfite sequencing are shown in Figure 1. The maspin gene was relatively hypomethylated in the placenta and completely methylated in maternal blood cells.

Bottom Line: 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.Median U-maspin concentrations were significantly elevated in women with trisomy 18 fetuses compared with controls (27.2 vs. 6.7 copies/mL; P<0.001).Median M-maspin concentrations were also significantly higher in women with trisomy 18 fetuses than in controls (96.9 vs. 19.5 copies/mL, P<0.001).

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea.

ABSTRACT

Background: 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.

Methodology/principal findings: A nested case-control study was conducted using maternal plasma collected from 66 pregnant women, 11 carrying fetuses with trisomy 18 and 55 carrying normal fetuses. Median U-maspin concentrations were significantly elevated in women with trisomy 18 fetuses compared with controls (27.2 vs. 6.7 copies/mL; P<0.001). Median M-maspin concentrations were also significantly higher in women with trisomy 18 fetuses than in controls (96.9 vs. 19.5 copies/mL, P<0.001). The specificities of U-maspin and M-maspin concentrations for non-invasive fetal trisomy 18 detection were 96.4% and 74.5%, respectively, with a sensitivity of 90.9%.

Conclusions: Our results suggest that U-maspin and M-maspin concentrations may be useful as potential biomarkers for non-invasive detection of fetal trisomy 18 in the first trimester of pregnancy, irrespective of the sex and genetic variations of the fetus.

Show MeSH
Related in: MedlinePlus