First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level
Journal of Genetic Medicine
;
: 1-7, 2017.
Article
in English
| WPRIM
| ID: wpr-114921
ABSTRACT
PURPOSE:
The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency (NT) thickness during the first trimester of pregnancy. MATERIALS ANDMETHODS:
A nested case-control study was conducted using maternal plasma samples collected from 65 pregnant women carrying 11 fetuses with trisomy 18 and 54 normal fetuses. We compared the U-maspin levels, NT thicknesses, or a combination of both in the first trimester between the case and control groups.RESULTS:
U-maspin levels and NT thickness were significantly elevated in the first trimester in pregnant women carrying fetuses with trisomy 18 when compared to those carrying normal fetuses (27.2 vs. 6.6 copies/mL, P<0.001 for U-maspin; 5.9 vs. 2.0mm, P<0.001 for NT). The sensitivities of the U-maspin levels and NT thickness in prenatal screening for fetal trisomy 18 were 90.9% and 90.9%, respectively, with a specificity of 98.1%. The combined U-maspin levels and NT thickness had a sensitivity of 100% in prenatal screening for fetal trisomy 18, with a specificity of 98.1%.CONCLUSION:
A combination of U-maspin levels and NT thickness is highly efficacious for noninvasive prenatal screening of fetal trisomy 18 in the first trimester of pregnancy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma
/
Pregnancy Trimester, First
/
Prenatal Diagnosis
/
Trisomy
/
Case-Control Studies
/
Mass Screening
/
Sensitivity and Specificity
/
Pregnant Women
/
Nuchal Translucency Measurement
/
Epigenomics
Type of study:
Diagnostic study
/
Observational study
/
Screening study
Limits:
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2017
Type:
Article
Similar
MEDLINE
...
LILACS
LIS