Erol Seyit Ahmet, Tanacan Atakan, Firat Oguz Esra, Anuk Ali Taner, Goncu Ayhan Sule, Neselioglu Salim, Sahin Dilek
Department of Perinatology, Turkish Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Department of Clinical Biochemistry, Turkish Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Congenit Anom (Kyoto). 2021 Sep;61(5):169-176. doi: 10.1111/cga.12432. Epub 2021 Jun 23.
It was aimed to evaluate the levels of maternal serum proprotein convertase subtilisin/kexin type 9 (PCSK9) in pregnant women with a fetus diagnosed with open neural tube defects (NTDs). This case-control study included 38 pregnant women carrying fetuses with open NTDs and 44 age-matched, pregnant women with no specified risk factors. Comparisons were made of the groups in respect of demographic and clinical data and PCSK9 levels. To examine the performance of PCSK9 levels in the prediction of fetal open NTDs, receiver operating characteristic (ROC) curve analysis was used. In the first and second trimesters, PCSK9 levels were determined to be lower in the NTD group than in the control group (p = 0.010 and p = 0.015, respectively). In the first trimester, the lower PCSK9 levels in the NTD group were not statistically significant (p = 0.575). In the second trimester, the ROC curve value with the best balance of sensitivity/specificity for PCSK9 was 71.9 ng/ml (84.6% sensitivity, 51.7% specificity) and in the first and second trimester combined, 74.4 ng/ml (81.6% sensitivity, 45.5% specificity) (p = 0.015, p = 0.036, respectively). PCSK9 may be involved in the etiopathogenesis of open NTDs at the critical steps of fetal neuronal differentiation. Although it has limitations, PCSK9 may be used as an additional biomarker for the screening of NTDs.
本研究旨在评估胎儿被诊断为开放性神经管缺陷(NTDs)的孕妇血清前蛋白转化酶枯草杆菌蛋白酶/kexin 9型(PCSK9)的水平。这项病例对照研究纳入了38名怀有开放性NTDs胎儿的孕妇以及44名年龄匹配、无特定危险因素的孕妇。对两组的人口统计学和临床数据以及PCSK9水平进行了比较。为了检验PCSK9水平在预测胎儿开放性NTDs中的表现,采用了受试者操作特征(ROC)曲线分析。在孕早期和孕中期,NTD组的PCSK9水平被确定低于对照组(分别为p = 0.010和p = 0.015)。在孕早期,NTD组较低的PCSK9水平无统计学意义(p = 0.575)。在孕中期,PCSK9的敏感性/特异性平衡最佳的ROC曲线值为71.9 ng/ml(敏感性84.6%,特异性51.7%),在孕早期和孕中期合并时为74.4 ng/ml(敏感性81.6%,特异性45.5%)(分别为p = 0.015,p = 0.036)。PCSK9可能在胎儿神经元分化的关键步骤中参与开放性NTDs的发病机制。尽管存在局限性,但PCSK9可作为NTDs筛查的一种额外生物标志物。