摘要
目的探讨无创产前检测(NIPT)技术在胎儿性染色体非整倍体(SCA)检测中的应用价值。方法对223例NIPT提示SCA高风险的孕妇的NIPT结果、介入性产前诊断结果、外周血核型检查结果及妊娠结局进行分析。以介入性产前诊断结果为标准,分析NIPT技术诊断SCA的阳性预测值(PPV)。结果223例SCA孕妇中,检出X染色体减少的孕妇比例最高(57.85%),其次是X染色体增加且有Y染色体(24.66%)、X染色体增加但无Y染色体(12.56%)的孕妇,检出Y染色体增加的孕妇比例最低(4.93%)。180例孕妇接受了进一步的介入性产前诊断,其中有66例确诊为SCA,NIPT的总PPV为36.67%,在X染色体减少病例中的PPV最低(19.81%),在Y染色体增加病例中的PPV最高(90.01%)。在66例确诊为SCA的孕妇中,有8例NIPT结果提示的性染色体异常类型和介入性产前诊断的性染色体异常类型不符,有3例孕妇自身存在性染色体异常。确诊为SCA的孕妇终止妊娠率为57.58%(38/66)。结论NIPT技术对SCA的产前筛查具有一定的价值,尤其是在性染色体三体病例中的PPV较高,但其在X染色体减少的病例中的检测准确性仍有待提高,孕妇自身的染色体异常可导致假阳性结果。
Objective To explore the application value of non-invasive prenatal testing(NIPT)technique in the detection of fetal sex chromosome aneuploidy(SCA).Methods The analyses of NIPT results,interventional prenatal diagnostic results,and karyotype examination results in peripheral blood,as well as pregnancy outcome on 223 pregnant women with high risk of SCA indicated by NIPT were conducted.Taking the result of interventional prenatal diagnosis as standard,the positive predictive value(PPV)of NIPT technique in diagnosing SCA was analyzed.Results Among 223 SCA pregnant women,the proportion of pregnant women with X chromosome reduction was the highest(57.85%),followed by that(24.66%)with X chromosome increase and with Y chromosome,that(12.56%)with X chromosome increase but without Y chromosome,and the proportion of those with Y chromosome increase was the lowest(4.93%).A total of 180 pregnant women received interventional prenatal diagnosis further,of whom 66 were confirmed as SCA.The total PPV of(90.01%)NIPT was 36.67%,with the lowest PPV(19.81%)in cases with X chromosome reduction but with the highest PPV in cases with Y chromosome increase.Among 66 pregnant women confirmed as SCA,the types of sex chromosome abnormalities indicated by NIPT result were not consistent with the types of sex chromosome abnormalities detected by interventional prenatal diagnosis in 8 cases,and there were 3 pregnant women with auto-sex chromosome abnormalities.The termination rate of pregnancy was 57.58%(38/66)in the pregnant women confirmed as SCA.Conclusion NIPT technique exerts a certain value on the prenatal screening of SCA.In particular,the PPV is relatively high in cases with sex chromosome trisomy;however,its detection accuracy in cases with X chromosome reduction still needs to be improved,and auto-chromosome abnormalities of pregnant women may lead to a false positive result.
作者
崖娇练
徐玉婵
许泽辉
蔡稔
罗世强
蔡鹏飞
覃柳群
严提珍
YA Jiao-lian;XU Yu-chan;XU Ze-hui;CAI Ren;LUO Shi-qiang;CAI Peng-fei;QIN Liu-qun;YAN Ti-zhen(Department of Medical Genetics,Liuzhou Maternity and Child Healthcare Hospital,Liuzhou Key Laboratory of Birth Defects Prevention and Control,Liuzhou Key Laboratory of Reproductive Medicine,Liuzhou 545001,Guangxi,China)
出处
《广西医学》
CAS
2022年第20期2364-2368,共5页
Guangxi Medical Journal
基金
广西柳州市科技计划项目(2018AF10501)
广西医学高层次骨干人才“139”计划培养人选培养目标专项(G202003028)
广西壮族自治区卫生健康委员会自筹经费科研课题(Z-B20221587)。
关键词
无创产前检测
性染色体非整倍体
性染色体异常
产前诊断
阳性预测值
筛查
应用价值
Non-invasive prenatal testing
Sex chromosome aneuploidy
Sex chromosome abnormality
Prenatal diagnosis
Positive predictive value
Screening
Application value
