绒毛组织活检联合血清miR-423检测在高危孕妇产前诊断中的价值

Value of villus biopsy combined with serum miR-423 detection in prenatal diagnosis of high-risk pregnant women

目的研究胎盘绒毛组织活检联合血清miR-423检测在高危孕妇产前诊断中的价值。方法将2018年2月至2021年3月于该院就诊的高危孕妇120例纳入研究作为高危组,其中唐氏综合征26例,东南亚缺失型α珠蛋白生成障碍性贫血(以下简称“地贫”)13例,其他α地贫19例,β41-42杂合子型β地贫12例,β654杂合子型β地贫15例,β28杂合子型β地贫11例,β17杂合子型β地贫9例,其他β地贫15例。另外,选取正常妊娠的孕妇120例作为对照组。观察绒毛组织活检与临床最终诊断结果的一致性;比较两组miR-423相对表达水平;分析绒毛组织活检联合血清miR-423检测用于高危孕妇产前诊断的效能。结果绒毛组织活检与临床最终诊断结果的一致性较好;高危组miR-423相对表达水平低于对照组(t=78.691,P<0.001);绒毛组织活检联合miR-423检测用于高危孕妇产前诊断的特异度高于单独检测(P<0.05);受试者工作特征曲线分析结果显示,绒毛组织活检联合miR-423检测用于高危孕妇产前诊断的曲线下面积高于单独检测。结论绒毛组织活检联合血清miR-423检测用于高危孕妇产前诊断的效能较高。

Objective To investigate the value of villus biopsy combined with serum miR-423 detection in prenatal diagnosis of high-risk pregnant women.Methods A total of 120 high-risk pregnant women who were diagnosed and treated in our hospital from February 2018 to March 2021 were enrolled in the study as high-risk group,including 26 cases of Down′s syndrome,13 cases ofα-thalassemia of Southeast Asian deletion,19 cases of otherα-thalassemia,12 cases ofβ41-42 heterozygote,15 cases ofβ654 heterozygote,12 cases ofβ41-42 heterozygote,11 cases ofβ28 heterozygote,9 cases ofβ17 heterozygote and 15 cases of otherβ-thalassemia.In addition,120 women with normal pregnancy in the same period were enrolled as the control group.The diagnostic consistency between villus biopsy and clinical final diagnosis was observed;the serum miR-423 levels between the two groups were compared;the diagnostic efficacy of villus biopsy combined with serum miR-423 detection in prenatal diagnosis of high-risk pregnant women was investigated.Results There was a good consistency between villus biopsy and clinical final diagnosis.The serum miR-423 level in high-risk group was significantly lower than that in the control group(t=78.691,P<0.001).The specificity of villus biopsy combined with miR-423 level was significantly higher than those of single detections.ROC curve analysis showed that the area under the curve of villus biopsy combined with miR-423 level detection in the diagnosis of high-risk pregnant women was significantly higher than those of single detection.Conclusion Villus biopsy combined with serum miR-423 detection is highly effective in prenatal diagnosis of high-risk pregnant women.