Steroid profile analysis by liquid chromatography-tandem mass spectrometry in second-trimester pregnant women for trisomy 21 screening

Background: Trisomy 21 is a serious chromosome abnormality. The conventional Down's screening test is the most widely used for trisomy 21 screening. However, this method could lead to a higher false positive rate. Therefore, we aim to analyze steroid profile in second-trimester pregnant women and identify novel serum biomarkers of trisomy 21. Methods: We employed an LC-MS/MS method to measure the steroid profile. The concentrations and product-to-substrate ratios in 71 second-trimester pregnant women were determined and statistically analyzed to identify novel biomarkers for trisomy 21 screening. Results: We found that there were significant differences in levels of E3, 11-deoxycortisol, and 11-deoxycortisol /17-hydroxyprogesterone between two groups. The OPLS-DA plots revealed obvious separation between two groups. Combining VIP analysis (VIP > 1.0) with volcano plot (P < 0.05 and fold change >1.2 or < 0.83), 11-deoxycortisol was identified as a novel biomarker for trisomy 21. After controlling for confounders, we found 11-deoxycortisol was associated with trisomy 21 (adjusted P = 0.009), and the fully adjusted OR (95 % CI) was 0.098 (0.016-0.593) in highest quartile versus lowest quartile of 11-deoxycortisol (P = 0.011). Conclusions: Steroid profile analysis for the first time showed that steroid hormones perturbations occurred in pregnant women carrying a fetus affected by trisomy 21 and decreased 11-deoxycortisol levels were associated with trisomy 21. (C) 2021 Elsevier B.V. All rights reserved.

Automated summary

The study analyzed the steroid profile in second-trimester pregnant women and found that 11-deoxycortisol is a novel biomarker for trisomy 21.