无创产前检测在胎儿性染色体异常筛查中的应用

Application of non-invasive prenatal testing in fetal sex chromosome abnormality screening

目的探讨无创产前检测(NIPT)在胎儿性染色体异常筛查中的应用。方法回顾性选取2019年1月至2022年12月在嘉兴市妇幼保健院行NIPT提示性染色体异常且行介入性产前诊断的73例孕妇为研究对象,分析并比对NIPT与介入性产前诊断结果,同时分析NIPT与介入性产前诊断结果不一致情况。结果73例孕妇中,NIPT诊断性染色体增多34例,性染色体减少39例。71例行染色体核型分析的孕妇中,33例核型异常。65例行染色体微阵列分析的孕妇中,37例芯片结果异常。在NIPT提示性染色体增多的孕妇中,染色体核型分析与NIPT结果阳性符合率为69.70%;染色体微阵列分析与NIPT结果阳性符合率为70.00%。在NIPT提示性染色体减少的孕妇中,染色体核型分析与NIPT结果阳性符合率为23.68%,染色体微阵列分析与NIPT结果阳性符合率为20.00%。在NIPT提示性染色体异常的孕妇中,有1例染色体核型分析异常但与NIPT结果不一致,9例染色体微阵列分析异常但与NIPT结果不一致。在63例同时行染色体核型分析和染色体微阵列分析的孕妇中,26例与NIPT结果一致,37例与NIPT结果不一致(包括染色体核型分析和染色体微阵列分析均为阴性23例、染色体核型分析阴性但染色体微阵列分析阳性8例、染色体微阵列分析阴性但染色体核型分析阳性4例、染色体核型分析和染色体微阵列分析为染色体异常但结果不一致2例)。结论NIPT可作为胎儿性染色体异常的筛查方法,对于NIPT检出阳性者建议进一步行介入性产前诊断。

Objective To explore the application of non-invasive prenatal testing(NIPT)in fetal sex chromosome abnormality screening.Methods Seventy-three pregnant women indicated by NIPT as sex chromosome abnormality,who underwent interventional prenatal diagnosis in Jiaxing Maternity and Child Health Care Hospital from January 2019 to December 2022,were enrolled in the study.The results of NIPT and interventional prenatal diagnosis were compared and analyzed.Results Among 73 pregnant women,there were 34 cases with increased sex chromosomes and 39 cases with decreased sex chromosomes as diagnosed by NIPT.Among 71 pregnant women who underwent chromosomal karyotype analysis,33 cases had abnormal karyotype.Among 65 pregnant women who underwent chromosomal microarray analysis,37 had abnormal microarray results.In pregnant women with NIPT-suggested chromosome increase,the positive coincidence rate of NIPT with chromosome karyotype analysis was 69.70%,and that with chromosome microarray analysis was 70.00%.In pregnant women with NIPT-suggested chromosome reduction,the positive coincidence rate of NIPT with chromosome karyotype analysis was 23.68%,and that with chromosome microarray analysis was 20.00%.Among the pregnant women with NIPT suggested chromosome abnormalities,there was 1 case with abnormal chromosome as indecated by chromosomal karyotype analysis but it was inconsistent with NIPT results,and 9 case with abnormal chromosome as indicated by chromosomal microarray analysis but it was inconsistent with NIPT results.Among 63 pregnant women who underwent both chromosomal karyotype analysis and chromosomal microarray analysis, 26 cases were consistent with NIPT results, 37 cases were inconsistent with NIPT results (including 23 cases with negative chromosome karyotype analysis and chromosome microarray analysis, 8 cases with negative chromosome karyotype analysis and positive chromosome microarray analysis, 4 cases with negative chromosome microarray analysis and positive chromosome karyotype analysis, 2 cases with chromosome abnormality but inconsistent results between chromosome karyotype analysis and chromosome microarray analysis). Conclusion NIPT can be used in screening for fetal sex chromosome abnormalities, while interventional prenatal diagnosis should be recommended for further diagnosis.