Application of NIPT in screening for chromosomal abnormalities in fetal chorioplexus cysts
[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(x2=0.000,P=1.000).There was a statistical difference in the detection rate between iCPC and cCPC(x2=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.
万方数据
维普
