摘要
目的探讨无创产前基因检测(noninvasive prenatal testing,NIPT)对血清学筛查临界风险孕妇的检测效能。方法通过选取广东省妇幼保健院2015年1月至2019年12月12342例血清学筛查临界风险单胎孕妇,采用高通量测序技术分析孕妇外周血胎儿游离DNA,结果提示高风险孕妇建议行羊水或脐血染色体核型分析或者染色体微阵列芯片分析,并对所有纳入研究的孕妇追踪随访母胎妊娠结局,未进行产前诊断的孕妇以随访结果为准,随访率100%。结果12342例血清学临界风险孕妇中,NIPT检测结果提示高风险74例,其中21-三体28例、18-三体3例、13-三体10例、性染色体异常22例、染色体缺失/重复11例,阳性率为0.60%(74/12342)。74例高风险孕妇通过进一步的结果验证,产前诊断阳性病例为21-三体20例、18-三体1例、13-三体4例、性染色体异常5例、染色体缺失/重复4例。21-三体综合征、18-三体综合征、13-三体综合征、性染色体异常和染色体缺失/重复阳性预测值(positive predictive value,PPV)分别为71.43%、33.33%、40.00%、22.73%和6.36%,NIPT低风险孕妇全部完成追踪随访,未发现21-三体综合征、18-三体综合征、13-三体综合征、性染色体异常和染色体缺失/重复漏诊病例。结论无创产前基因检测提高了21-三体综合征、18-三体综合征、13-三体综合征的临床检测效能,有效避免了血清学筛查临界风险的漏诊,不仅降低出生缺陷,还可以避免过度介入性产前诊断。
Objective To investigate the performance of noninvasive prenatal testing(NIPT)for pregnant women with moderate-risk results in standard screening.Methods In this retrospective study,data were collected from women with moderate-risk results in standard screening who underwent noninvasive prenatal testing in Guangdong Women and Children Hospital between January 2015 and December 2019.Invasive prenatal diagnosis was suggested for those with a positive NIPT result,and pregnancy outcomes were followed up for all cases.Results NIPT was performed on 12,342 pregnancies with moderate-risk results in standard screening.Among them,74 cases were with high risk results,including 28 cases of trisomy 21,3 cases of trisomy 18,10 cases of trisomy 13,22 cases of sex chromosome abnormality,and 11 cases of chromosomal deletion/duplication.The total positive rate was 0.60%(74/12,342).Further invasive prenatal diagnosis of 74 cases with positive NIPT results showed that 34 cases were confirmed as positive results,including 20 cases of trisomy 21,1 cases of trisomy 18,4 cases of trisomy13,5 cases of sex chromosome abnormality,and 4 cases of chromosomal deletion/duplication.The positive predictive value of NIPT in the diagnosis of 21 trisomy,18 trisomy and 13 trisomy,sex chromosome abnormality and chromosomal deletion/duplication were 71.43%,33.33%,40.00%,22.73%and 36.36%,respectively.The follow-up survey of cases with negative NIPT results showed that no 21 trisomy,18 trisomy and 13 trisomy,sex chromosome abnormality and chromosomal deletion/duplication results were found.Conclusion High performance of NIPT was showed among pregnancies with moderate-risk results in standard screening.
作者
王奕霞
彭海山
李怡
杨洁霞
侯亚萍
郭芳芳
欧阳浩新
王东梅
Wang Yixia;Peng Haishan;Li Yi;Yang Jiexia;Hou Yaping;Guo Fangfang;Ouyang Haoxin;Wang Dongmei(Medical Genetics Center,Guangdong Women and Children Health Care Hospital,Guangzhou,Guangdong 510010,China)
出处
《中国产前诊断杂志（电子版）》
2020年第4期60-64,共5页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
关键词
无创产前基因检测
血清学筛查临界风险
阳性预测值
Noninvasive prenatal testing
Moderate-risk results in standard screening
Positive predictive value
