无创产前检测技术在胎儿脉络丛囊肿筛查染色体异常的应用  

Application of NIPT in screening for chromosomal abnormalities in fetal chorioplexus cysts

作　　者：代鹏[1] 孔祥东[1] DAI Peng;KONG Xiangdong(The Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,河南郑州450052

出　　处：《中国医学工程》2024年第10期1-6,共6页China Medical Engineering

基　　金：河南省科技攻关(242102310165);河南省科技攻关-重点项目(SBGJ202402058)。

摘　　要：目的探讨无创产前检测技术(NIPT)应用于胎儿脉络丛囊肿(CPC)筛查染色体异常的临床价值。方法回顾性分析因胎儿CPC或CPC合并其他超声软指标异常孕妇选择NIPT的临床资料,总结NIPT的检出率、阳性预测值等指标。结果608例胎儿CPC或CPC合并其他超声软指标异常孕妇中,16例胎儿为高风险,检出率为2.6%(16/608),9例为染色体非整倍体,7例为染色体拷贝数变异(CNV)。15例孕妇选择了浸入性产前诊断,确诊8例,阳性预测值(PPV)为53.3%(8/15)。≥35岁和<35岁的胎儿CPC检出率差异无统计学意义(χ^(2)=0.000,P=1.000)。iCPC和cCPC的检出率差异有统计学意义(χ^(2)=8.988,P=0.003)。双侧、左侧和右侧胎儿CPC的检出率差异无统计学意义(P>0.05)。结论CPC与胎儿染色体异常存在相关性。NIPT可应用于超声提示胎儿CPC孕妇的可选筛查技术,且筛查准确性较高,避免侵入性检查,有助于提高产前诊断的检出率,降低产前诊断压力。【Objective】To investigate the clinical value of noninvasive prenatal testing(NIPT)in screening for chromosomal abnormalities in fetal choroid plexus cyst(CPC).【Methods】The clinical data of NIPT selected by pregnant women with abnormal fetal CPC or CPC combined with other soft ultrasound indicators were analyzed,and the detection rate and positive predictive value of NIPT were summarized.【Results】Among 608 pregnant women with fetal CPC or CPC combined with other ultrasound soft indicators,16 fetuses were at high risk,the detection rate was 2.6%(16/608),9 fetuses were aneuploidy,and 7 fetuses were copy number variants.Fifteen pregnant women chose immersion prenatal diagnosis,and 8 cases were diagnosed,with PPV of 53.3%(8/15).There was no significant difference in detection rate of CPC between≥35 years old and<35 years old(χ^(2)=0.000,P=1.000).There was a statistical difference in the detection rate between iCPC and cCPC(χ^(2)=8.988,P=0.003).Bilateral,left and right fetal CPC detection rate was not statistically different.【Conclusion】CPC is correlated with fetal chromosome abnormality.NIPT can be used as an optional screening technique for pregnant women whose fetal CPC is indicated by ultrasound,and the screening accuracy is high.It can avoid the invasive examination,help improve the detection rate of prenatal diagnosis and reduce the pressure of prenatal diagnosis.

关 键 词：无创产前检测技术 脉络丛囊肿 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]