母体外周血游离DNA检测失败的影响因素及其妊娠结局  

Influencing factors and pregnancy outcomes of unsuccessful cell-free DNA testing in maternal perinatal blood

作　　者：李佳欣 原鹏波[1] 王学举[1] 田婵[1] 常亮[1] 宫晓丽 任珂 魏瑗[1] 赵扬玉[1] Li Jiaxin;Yuan Pengbo;Wang Xueju;Tian Chan;Chang Liang;Gong Xiaoli;Ren Ke;Wei Yuan;Zhao Yangyu(Department of Obstetrics and Gynecology,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学第三医院妇产科,100191

出　　处：《中华围产医学杂志》2020年第9期585-593,共9页Chinese Journal of Perinatal Medicine

摘　　要：目的探讨母体外周血游离DNA(cell-free DNA,cfDNA)检测失败的影响因素及其妊娠结局。方法回顾性选取2017年4月至2019年4月在北京大学第三医院接受cfDNA检测的5195例孕妇,按照cfDNA首次检测是否得到有效结果分为cfDNA检测成功组(5107例)及cfDNA检测失败组(88例)。采用Mann-Whitney U检验及χ2检验对比cfDNA检测成功与失败孕妇的临床特征,通过多因素logistic回归分析cfDNA检测失败的危险因素及体重指数(body mass index,BMI)对检测成功率的影响,评估重采血检测的可行性及重采血检测失败的影响因素。结果首次检测失败率为1.7%(88/5195),失败者中85例选择重采血检测,74例(87.1%,74/85)获得了有效的cfDNA检测结果,11例(12.9%,11/85)仍无有效结果,cfDNA检测最终失败率为0.2%(11/5195)。多因素回归分析显示孕妇年龄增加(OR=1.086,95%CI:1.023~1.152,P=0.006)、BMI增加(OR=1.083,95%CI:1.021~1.149,P=0.008)及双胎妊娠(OR=3.093,95%CI:1.715~5.577,P<0.001)是cfDNA检测失败的危险因素,而胎儿游离DNA(cell-free fetal DNA,cffDNA)浓度高(OR=0.758,95%CI:0.720~0.761,P<0.001)是检测失败的保护因素。进一步按孕妇采血检测cfDNA时的BMI分组,发现超重组(BMI 25~29.9 kg/m2)和肥胖组(BMI≥30 kg/m2)孕妇发生cfDNA检测失败的风险分别为正常体重组(BMI 18.5~24.9 kg/m2)的3.626倍(OR=3.626,95%CI:2.298~5.724,P<0.001)和4.064倍(OR=4.064,95%CI:1.779~9.284,P=0.001)。重采血检测的成功率随母体BMI的增加而降低,但与2次采血的时间间隔无关(OR=0.840,95%CI:0.699~1.245,P=0.065)。74例重采血检测获得有效结果的孕妇中,检测结果高风险7例,经羊水细胞染色体核型分析证实1例45,X和1例47,XXY。11例重采血检测失败的孕妇中有8例进行了产前诊断,胎儿染色体核型均正常;其余3例未行产前诊断,但均分娩了表型正常的新生儿。cfDNA检测失败组与成功组间妊娠丢失率差异无统计学意义[9.1%(8/88)与2.5%(128/5107),P=0.090]。结论孕�Objective To explore the possible factors leading to failure of cell-free DNA(cfDNA)testing in maternal peripheral blood and analyze the pregnancy outcomes of this group of pregnant women.Methods This retrospective study involved 5195 women who underwent cfDNA testing in Peking University Third Hospital from April 2017 to April 2019.Based on the first cfDNA testing results,clinical characteristics of the pregnant women with successful(success group,n=5107)and failed(failure group,n=88)cfDNA testing were compared using Mann-Whitney U test and Chi-square test.Multivariate logistic regression was used to analyze the risk factors of cfDNA testing failure and the effect of body mass index(BMI)on the success rate,and evaluate the feasibility of re-sampling and the factors affecting the unsuccessful testing of a second sample.Results The failure rate of first cfDNA testing was 1.7%(88/5195).Successful cfDNA testing was achieved in 74(87.1%,74/85)of 85 re-sampling cases,while results of the other 11 cases(12.9%,11/85)remained invalid.Thus,the final failure rate was 0.2%(11/5195).Multivariate logistic regression revealed that increased maternal age(OR=1.086,95%CI:1.023-1.152,P=0.006),BMI(OR=1.083,95%CI:1.021-1.149,P=0.008)and twin pregnancies(OR=3.093,95%CI:1.715-5.577,P<0.001)were the risk factors of cfDNA testing failure,while increased cell-free fetal DNA(cffDNA)concentration(OR=0.758,95%CI:0.720-0.761,P<0.001)was a protective factor.The overweight(BMI:25-29.9 kg/m2)and obese(BMI≥30 kg/m2)women were 3.626(OR=3.626,95%CI:2.298-5.724,P<0.001)and 4.064(OR=4.064,95%CI:1.779-9.284,P=0.001)times more likely to have failed cfDNA testing than those with normal weight(BMI:18.5-24.9 kg/m2),respectively.The success rate of re-testing decreased as the maternal BMI increased,regardless of the time interval between the two samplings(OR=0.840,95%CI:0.699-1.245,P=0.065).Seven out of the 74 cases with successful results in re-testing were at high risk,including one 45,X and one 47,XXY,confirmed by karyotyping amniocentesis.Among the

关 键 词：游离核酸 母体血清学筛查 妊娠结局 

分 类 号：R714.5[医药卫生—妇产科学]