血清miR-182-5p、CFB和ADAM12在孕早期產前篩查唐氏綜合征中的應用價值

［摘 要］目的 探討孕早期血清微小核糖核酸（miR）-182-5p、補體因子B（CFB）和解整合素金屬蛋白酶12（ADAM12）水平在產前唐氏綜合征（DS）篩查中的應用價值。方法 選取2015年1月至2022年1月雅安市人民醫院收治的150例DS胎兒孕婦為DS組，另選取同期87名健康胎兒孕婦為對照組。采用實時熒光定量聚合酶鏈式反應檢測孕早期血清miR-182-5p水平，酶聯免疫吸附法檢測CFB、ADAM12水平。通過多因素Logistic回歸分析DS的影響因素，受試者工作特征（ROC）曲線分析孕早期血清miR-182-5p、CFB和ADAM12水平對DS的預測價值。結果 DS組年齡大于對照組，吸煙比例和CFB水平高于對照組，miR-182-5p、ADAM12水平低于對照組，差異均有統計學意義（χ2/t/Z值介于3.141～8.793之間，P＜0.05）；多因素Logistic回歸分析顯示，年齡增加、吸煙、CFB升高為DS的獨立危險因素，miR-182-5p、ADAM12升高為獨立保護因素，其OR值及95%CI分別為1.122（1.012～1.243）、4.290（1.216～15.131）、1.460（1.268～1.681）、0.656（0.563～0.765）、0.996（0.994～0.998），P＜0.05；ROC曲線分析顯示，孕早期血清miR-182-5p、CFB和ADAM12水平聯合預測DS的曲線下面積（AUC）為0.913，大于各指標單獨預測（Z值分別為5.233、4.414、4.809，P＜0.05）。結論 孕婦血清miR-182-5p、CFB和ADAM12在孕早期產前篩查唐氏綜合征中具有潛在應用價值，三者聯合有利于在孕早期篩查唐氏綜合征。

［關鍵詞］孕早期；唐氏綜合征；微小核糖核酸-182-5p；補體因子B；解整合素金屬蛋白酶12；產前篩查

Doi：10.3969/j.issn.1673-5293.2024.09.012

［中圖分類號］R173""" ［文獻標識碼］A

［文章編號］1673-5293（2024）09-0076-06

Application value of serum miR-182-5p，CFB and ADAM12 detection in prenatal

screening for Down's syndrome in early pregnancy

［Abstract］ Objective To investigate application value of detection for serum levels of micro ribonucleic acid （miR）-182-5p，complement factor B （CFB） and a disintegrin and metalloprotease 12 （ADAM12） in early pregnancy in prenatal Downs syndrome （DS） screening. Methods 150 pregnant women with DS fetuses who admitted to Ya′an Municipal People's Hospital from January 2015 to January 2022 were selected as the DS group，and another 87 pregnant women with healthy fetuses in the same period were selected as the control group.Real-time fluorescence quantitative polymerase chain reaction （qPCR） was used to detect serum miR-182-5p level，and enzyme-linked immunosorbent assay （ELISA） was used to detect serum CFB and ADAM12 levels.Multifactorial Logistic regression was used to analyze influencing factors of DS and receiver operating characteristic （ROC） curves was used to analyze predictive values of serum miR-182-5p，CFB and ADAM12 levels in early pregnancy for DS. Results The pregnant women in the DS group were older than those pregnant women in the control group，their proportion of smoking and serum CFB level were higher than those in the control group，while the serum levels of miR-182-5p and ADAM12 were lower than those in the control group，and the differences were statistically significant （χ2/t/Z values ranged from 3.141 to 8.793，all Plt;0.05）.Multifactorial Logistic regression analysis showed that increase in age，smoking and elevated serum CFB level were independent risk factors for DS，while elevated serum miR-182-5p and ADAM12 levels were independent protective factors for DS，and their ORs （95%CIs） were 1.122 （1.012-1.243），4.290 （1.216-15.131），1.460 （1.268-1.681），0.656 （0.563-0.765） and 0.996 （0.994-0.998） respectively，all Plt;0.05.Receiver operating characteristic （ROC） curve analysis showed that the AUC of the combined prediction of serum miR-182-5p，CFB and ADAM12 levels in early pregnancy for DS was 0.913，which was greater than those predicted by each index alone （Z=5.233，4.414 and 4.809 respectively，all Plt;0.05）. Conclusion Detection of maternal serum miR-182-5p，CFB and ADAM12 levels has potential application values in prenatal screening for DS in early pregnancy，and the combination of all three is beneficial in screening for DS in early pregnancy.

［Key words］ early pregnancy;Downs syndrome;micro ribonucleic acid-182-5p;complement factor B;a disintegrin and metalloprotease 12;prenatal screening

唐氏綜合征（Downs syndrome，DS）是異常增多一條21號染色體所致的染色體疾病。近年來隨著我國全面三胎政策的開放，高齡產婦數量增加，新生兒出生缺陷中DS發病率也越來越高［1-2］。目前DS尚無有效治療和預防方法，無創產前DNA檢測雖然具有無創取樣、無流產風險和準確度高等特點，但對雙胎或多胎、高齡妊娠、肥胖、胎兒染色體異常等情況準確度較低，且費用較高不適合廣大孕婦人群。……