超声检测胎儿颈项透明层结合血清β-hCG、PAPP-A诊断孕早期胎儿染色体核型异常价值

Diagnostic value of ultrasonic detection of fetal nuchal translucency combined with the levels of serum human chorionic gonadotropin β and pregnancy associated plasma protein A of pregnant women for the chronosomal karyotype abnormality of their fetuses during the first trimester of pregnancy

目的:探讨超声检测胎儿颈项透明层(NT)结合血清β人绒毛膜促性腺激素(β-hCG)、妊娠相关血浆蛋白A(PAPP-A)检测在孕早期胎儿染色体核型异常诊断中的价值。方法:选取2018年1月-2022年1月在本院经孕期综合筛查后明确需行羊水染色体核型分析的孕早期孕妇88例,分析胎儿染色体核型,依据核型结果分成染色体异常核型组(n=11)和正常组(n=77),比较两组孕妇血清PAPP-A、β-hCG水平和胎儿NT值及阳性结果,采用受试者工作特征(ROC)曲线分析血清PAPP-A、β-hCG、胎儿NT值诊断胎儿染色体核型异常价值。结果:88例中异常染色体核型11例,异常率12.5%;染色体核型异常组血清β-hCG水平、胎儿的NT值均高于正常组,PAPP-A低于正常组(P<0.05);染色体异常核型组血清PAPP-A、β-hCG水平、胎儿NT值及联合检测的阳性率均高于正常组(P<0.05);ROC分析,血清PAPP-A、β-hCG、胎儿NT值联合诊断胎儿染色体核型异常的敏感度和特异度分别为63.6%、94.3%,曲线下面积0.798(95%CI为0.607~0.9489),高于单独指标诊断(P<0.05)。结论:血清PAPP-A、β-hCG水平及胎儿NT检测在筛查孕早期胎儿染色体异常核型中有一定诊断价值,联合筛查诊断效能提高。

Objective:To investigate the diagnostic value of ultrasonic detection of fetal nuchal translucency(NT)com-bined with the levels of serum human chorionic gonadotropin β(β hCG)and pregnancy associated plasma protein A(PAPP A)of pregnant women for the chromosomal karyotype abnormality of their fetuses during the first trimester of pregnancy.Methods:88 pregnant women with the suspicious fetal chromosomal karyotype abnormality after compre-hensive pregnancy screening who wanted confirmed by amniotic fluid karyotype analysis of the fetuses during the first trimester of pregnancy were selected in this study from January 2018 to January 2022.According to the results of the fetal karyotype analysis,these women were divided into group A(77 women with normal fetal karyotype)and group B(11 women with abnormal fetal karyotype).The levels of serum β hCG and PAPP A,and the fetal NT value of the women were compared between the two groups.Receiver operating characteristic(ROC)curve was used to analyze the value of the levels of serum β hCG and PAPP A,and the fetal NT value of the women for diagnosing their fetal abnor-mal chromosome karyotype.Results:Among 88 women,there were 11(12.5%)cases with abnormal fetal karyotype.The β HCG level and the fetal NT value of the women in group B were significantly higher than those of the women in group A,and the PAPP A level of the women in group B was significantly lower(P<0.05).The serum PAPP A lev-el,the serum β HCG level,the fetal NT value,and the positive rate of the combined serum PAPP A and β HCG levels and fetal NT value for predicting the abnormal fetal karyotype of the women in group B were significantly higher than those of the women in group A(P<0.05).ROC analysis showed that the sensitivity,the specificity,and the area un-der the curve of the combined serum PAPP A and β HCG levels and fetal NT value of the women for diagnosing their fetal abnormal chromosome karyotype were 63.6%,94.3%,and 0.798(95%CI 0.607-0.9489),respectively,and which were all significantly higher than those of the serum PAPP A level,the serum β HCG level,or the fetal NT val-ue of the women alone(P<0.05).Conclusion:The serum PAPP A level,the serumβHCG level,and the fetal NT value of the women during the first trimester of pregnancy for diagnosing their fetal chromosomal karyotype abnormali-ties has certain values,and the combined serum PAPP A and β HCG levels and fetal NT value of the women for their fetal chromosomal karyotype abnormalities can increase the diagnostic values.