无创DNA检测在胎儿鼻骨发育异常中的应用价值  

Application value of noninvasive DNA detection in fetal nasal bone dysplasia

作　　者：张艳萍[1] 钟世林[1] 董晶[1] 王贺[1] 邓玉清[1] Zhang Yanping;Zhong Shilin;Dong Jing;Wang He;Deng Yuqing(Department of Obstetrics and Gynecology,Peking University Shenzhen Hospital,Shenzhen Guangdong 518036,P.R.China)

机构地区：[1]北京大学深圳医院妇产科,广东深圳518036

出　　处：《中国计划生育和妇产科》2022年第1期85-89,共5页Chinese Journal of Family Planning & Gynecotokology

摘　　要：目的探讨孕期无创DNA检测在胎儿鼻骨发育异常中的临床应用价值。方法回顾性分析北京大学深圳医院产前诊断中心已行无创DNA检测,因孕期超声发现胎儿鼻骨发育异常进一步行介入性产前诊断的81例孕妇,研究血清学筛查结果、无创DNA结果与染色体核型和染色体微阵列分析(chromosome microarray analysis, CMA)的关系。通过结果研究无创DNA检测在胎儿鼻骨发育异常中的应用价值及探讨其可行性。结果 81例鼻骨发育异常胎儿共检出染色体核型异常7例,CMA异常19例,其中致病性异常9例。孕妇合并鼻骨发育异常时无创DNA检测异常率与年龄无明显关系,差异无统计学意义(χ^(2)=1.761,P=0.185)。无创DNA高风险时发现胎儿染色体异常及CMA异常的敏感度、特异度、阳性预测值、阴性预测值分别是85.71%/66.67%、100%/100%、100%/100%、98.67%/96%。唐氏筛查高风险并无创DNA高风险预测胎儿染色体异常及CMA致病性的敏感度、特异度、阳性预测值、阴性预测值分别是66.67%/50%、100%/100%、100%/100%、97.37%/94.44%。唐氏筛查低风险并无创DNA低风险预测胎儿染色体正常及CMA非致病性异常的敏感度、特异度、阳性预测值、阴性预测值分别是88.57%/89.71%、100%/87.5%、100%/98.39%、42.86%/50%。结论孕期无创DNA检测对产前超声提示胎儿鼻骨发育异常的胎儿染色体情况有较高的预测价值,但仍有漏诊少数染色体或CMA致病性异常情况,必要时建议行介入性产前诊断。Objective To investigate the clinical value of noninvasive DNA detection in fetal nasal bone dysplasia during pregnancy.Methods A retrospective analysis was made on 81 pregnant women who had undergone non-invasive DNA testing in prenatal diagnosis center of Peking University Shenzhen Hospital and underwent further interventional prenatal diagnosis due to fetal nasal bone dysplasia detected by ultrasound during pregnancy.The relationship between serological screening results, non-invasive DNA results and chromosomal karyotype and CMA was studied.To study the application value and explore the feasibility of noninvasive DNA detection in fetal nasal bone dysplasia.Results There were 7 cases of chromosomal abnormalities and 19 cases of CMA abnormalities(9 pathogenic abnormalities).There was no significant relationship between the abnormal rate of noninvasive DNA detection and age in pregnant women with nasal bone dysplasia(χ^(2)=1.761,P=0.185).The sensitivity, specificity, positive predictive value and negative predictive value of detecting fetal chromosomal abnormalities and CMA abnormalities were 85.71%/66.67%,100%/100%,100%/100% and 98.67%/96%,respectively.The sensitivity, specificity, positive predictive value and negative predictive value of Down’s screening for high-risk combined with non-invasive DNA high-risk in predicting fetal chromosomal abnormalities and CMA pathogenicity were 66.67%/50%,100%/100%,100%/100% and 97.37%/94.44%,respectively.The sensitivity, specificity, positive predictive value and negative predictive value of Down’s screening low-risk with non-invasive DNA low-risk were 88.57%/89.71%,100%/87.5%,100%/98.39% and 42.86%/50%,respectively.Conclusion Noninvasive DNA detection during pregnancy has a high predictive value for fetal chromosomal abnormalities, but a few chromosomal or CMA pathogenic abnormalities are still missed.Interventional prenatal diagnosis should be recommended when necessary.

关 键 词：胎儿鼻骨发育异常 唐氏筛查 无创DNA 染色体 微阵列 

分 类 号：R715[医药卫生—妇产科学]