Department of Obstetrics and Gynecology, Oakland University -William Beaumont School of Medicine, Royal Oak, MI, USA.
Am J Obstet Gynecol. 2013 May;208(5):371.e1-8. doi: 10.1016/j.ajog.2012.12.035. Epub 2013 Jan 8.
The objective of the study was to perform first-trimester maternal serum metabolomic analysis and compare the results in aneuploid vs Down syndrome (DS) pregnancies.
This was a case-control study of pregnancies between 11+0 and 13+6 weeks. There were 30 DS cases and 60 controls in which first-trimester maternal serum was analyzed. Nuclear magnetic resonance-based metabolomic analysis was performed for DS prediction.
Concentrations of 11 metabolites were significantly different in the serum of DS pregnancies. The combination of 3-hydroxyisovalerate, 3-hydroxybuterate, and maternal age had a 51.9% sensitivity at 1.9% false-positive rate for DS detection. One multimarker algorithm had 70% sensitivity at 1.7% false-positive rate. Novel markers such as 3-hydroxybutyrate, involved in brain growth and myelination, and 2-hydroxybutyrate, involved in the defense against oxidative stress, were found to be abnormal.
The study reports novel metabolomic markers for the first-trimester prediction of fetal DS. Metabolomics provided insights into the cellular dysfunction in DS.
本研究旨在进行早孕期母体血清代谢组学分析，并比较非整倍体与唐氏综合征（DS）妊娠的结果。
这是一项 11+0 至 13+6 周妊娠的病例对照研究。30 例 DS 病例和 60 例对照中进行了早孕期母体血清分析。采用基于核磁共振的代谢组学分析进行 DS 预测。
DS 妊娠血清中 11 种代谢物的浓度存在显著差异。3-羟基异戊酸、3-羟丁酸和母亲年龄的组合对 DS 检测的灵敏度为 51.9%，假阳性率为 1.9%。一种多标记算法的灵敏度为 70%，假阳性率为 1.7%。发现了一些新的标志物，如参与大脑生长和髓鞘形成的 3-羟丁酸和参与抵御氧化应激的 2-羟丁酸，它们都存在异常。
本研究报道了用于早孕期胎儿 DS 预测的新型代谢组学标志物。代谢组学为 DS 中的细胞功能障碍提供了新的见解。
