母体外周血胎儿游离DNA浓度与不良围产结局的相关性探究  

Association between cell-free fetal DNA fraction in maternal serum and adverse perinatal outcomes

作　　者：李佳欣 宫晓丽 石慧峰 原鹏波[1] 陈练[1] 魏瑗[1] 赵扬玉[1] LI Jiaxin;GONG Xiaoli;SHI Huifeng;YUAN Pengbo;CHEN Lian;WEI Yuan;ZHAO Yangyu(Department of obstetrics,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院产科,100191

出　　处：《中国生育健康杂志》2023年第5期409-415,422,共8页Chinese Journal of Reproductive Health

基　　金：国家重点研发计划(No.2021YFC2700700)。

摘　　要：目的探究母体外周血中胎儿游离DNA(cffDNA)浓度与不良围产结局的相关性。方法纳入2017年4月-2021年4月孕12^(+0)~26^(+6)周在本院行cffDNA无创产前筛查的单胎妊娠孕妇9917例。Logistic回归和ROC曲线评估不同cffDNA浓度梯度与不良围产结局的相关性。结果与cffDNA浓度高于75^(th)百分位相比,当cffDNA浓度低于25^(th)百分位时,孕妇发生妊娠期高血压(OR=1.5,95%CI:1.1~2.0)、子痫前期(OR=1.5,95%CI:1.1~1.9)、妊娠期糖尿病(OR=1.2,95%CI:1.1~1.4)、胎儿宫内生长受限(OR=1.8,95%CI:1.3~2.6)的风险增加。另外,子痫前期亚组分析显示,cffDNA%低于25^(th)百分位显著增加子痫前期并发胎儿宫内生长受限(OR=2.2,95%CI:1.0~4.7)、早发型子痫前期(OR=3.5,95%CI:1.7~7.4)、重度子痫前期(OR=1.4,95%CI:1.0~2.0)风险。cffDNA浓度联合孕妇年龄、BMI、受孕方式、产次预测早发型子痫前期的效果最佳,ROC曲线下面积为0.9,敏感性93.6%,特异性89.2%。结论cffDNA低浓度与妊娠期高血压、子痫前期、妊娠期糖尿病、胎儿宫内生长受限的风险增加有关,且与子痫前期的严重程度有关。Objective To explore the association between cell-free fetal DNA(cffDNA)fraction in maternal serum and adverse perinatal outcomes.Methods A total of 9917 singleton pregnant women at 12^(+0)-26^(+6)week of gestation who underwent non-invasive prenatal testing(NIPT)in our hospital from April 2017 to April 2021 were included.Logistic regression and ROC curve were used to evaluate the correlation between different cffDNA fraction gradients and adverse perinatal outcomes.Results Compared with cffDNA fraction above 75^(th)percentile,the risk of pregnancy-induced hypertension(OR=1.5,95%CI:1.1-2.0),preeclampsia(OR=1.5,95%CI:1.1-1.9),gestational diabetes mellitus(OR=1.2,95%CI:1.1-1.4),and intrauterine growth restriction(OR=1.8,95%CI:1.3-2.6)was increased When cffDNA fraction was below the 25^(th)percentile.Otherwise,subgroup analysis of preeclampsia showed that the risk of preeclampsia complicated with intrauterine growth restriction(OR=2.2,95%CI:1.0-4.7),early onset preeclampsia(OR=3.5,95%CI:1.7-7.4)and severe preeclampsia(OR=1.4,95%CI:1.0-2.0)was higher in cffDNA fraction≤25^(th)group.The prediction of early-onset preeclampsia by cffDNA fraction combined with maternal characteristics,including age,BMI,conception and parity,had the best result,the area under ROC curve was 0.9,the sensitivity was 93.6%and the specificity was 89.2%.Conclusions The low cffDNA fraction is related to the increasing risk of pregnancy-induced hypertension,preeclampsia,gestational diabetes and fetal growth restriction,and is related to the severity of preeclampsia.

关 键 词：胎儿游离DNA浓度 不良围产结局 早期筛查 

分 类 号：R71[医药卫生—妇产科学] R17[医药卫生—临床医学]