探讨孕妇常见产前筛查指标单独及联合检测，对胎儿染色体异常的预测价值。

选择2018年1月至2021年9月在内蒙古医科大学附属医院接受羊水穿刺术的1 000例孕妇为研究对象。采用回顾性分析方法，对其临床资料进行分析。对孕妇常见产前筛查指标与胎儿染色体非整倍体的相关性，进行二元logistic回归分析。采用受试者工作特征(ROC)曲线，评估孕妇血清学筛查、胎儿超声软指标及无创产前检查(NIPT)单独及联合检测，对胎儿染色体异常的预测价值。本研究遵循的程序经本院伦理委员会批准(审批文号：YKD2016108)，所有孕妇对诊断过程均知情同意，并签署临床研究知情同意书。

①本研究胎儿染色体总体异常率为14.0%(140/1 000)。其中，染色体数目、染色体结构、染色体其他类型异常率分别为72.9%、18.6%、8.6%。②二元logistic回归分析结果显示，孕妇血清学筛查21-、18-三体高风险(OR＝3.030、10.094)，胎儿超声软指标异常、结构异常(OR＝6.125、3.774)及NIPT结果显示胎儿21-、18-、13-三体高风险与性染色体异常(OR＝877.846、29.111、37.651、43.514)，均与胎儿染色体非整倍体相关(P<0.05)。③NIPT分别联合高龄妊娠、血清学筛查、胎儿超声软指标，对于筛查胎儿染色体异常的阳性预测值分别为52.5%(31/59)、44.8%(13/29)、75.0%(6/8)，分别高于单纯高龄妊娠筛查的4.7%(8/172)、单纯血清学筛查的5.5%(15/273)、单纯胎儿超声软指标筛查的10.1%(20/198)，并且差异均有统计学意义(χ²＝71.80、48.21、23.78，均为P<0.001)。④ROC曲线分析结果显示：高龄妊娠联合NIPT筛查胎儿染色体异常的曲线下面积(AUC)及敏感度，均高于高龄妊娠筛查，并且差异均有统计学意义(P<0.05)；胎儿超声软指标联合NIPT筛查胎儿染色体异常的AUC，高于胎儿超声软指标筛查，特异度高于NIPT筛查，并且差异均有统计学意义(P<0.05)；血清学筛查联合NIPT与二者之一单独筛查胎儿染色体异常的AUC、敏感度、特异度分别比较，差异均无统计学意义(P>0.05)。

高龄妊娠联合NIPT可有效降低介入性产前诊断使用率。血清学筛查联合NIPT可降低筛查成本。胎儿超声软指标联合NIPT诊断胎儿染色体异常效能最佳。

To investigate the predictive value of single and combined detection of common prenatal screening indexes for pregnant women on fetal chromosomal abnormalities.

From January 2018 to September 2021, a total of 1 000 cases of pregnant women who underwent amniocentesis in Affiliated Hospital of Inner Mongolia Medical University, were enrolled into this study. The clinical data were analyzed by retrospective analysis method. Binary logistic regression analysis was conducted to investigate the correlation between common prenatal screening indexes and fetal chromosomal aneuploidy. Receiver operating characteristic (ROC) curves were used to evaluate the predictive value of single and combined tests such as maternal serum screening tests, fetal ultrasonic soft indexes, noninvasive prenatal testing (NIPT) for screening fetal chromosomal abnormalities. The procedure followed in this study was approved by the Ethics Committee of our hospital (Approval No. YKD2016108). Informed concents were obtained from all participants.

① The total rate of fetal chromosomal abnormalities in this study was 14.0% (140/1 000). Among them, the abnormal rates of chromosome number, chromosome structure, and other types of chromosome abnormal were 72.9%, 18.6% and 8.6%, respectively. ② The results of binary logistic regression analysis showed that maternal serum screening tests showed high risk for trisomy 21 and trisomy 18 (OR=3.030, 10.094), fetal ultrasonic soft index abnormalities, structural abnormalities (OR=6.125, 3.774), and NIPT showed high risk for trisomy 21, trisomy 18, trisomy 13 and sex chromosomal abnormalities (OR=877.846, 29.111, 37.651, 43.514) were all related to fetal chromosomal aneuploidy (P<0.05). ③ The positive predictive values of NIPT combined with advanced pregnancy, maternal serum screening tests, and fetal ultrasonic soft indexes, respectively, for screening fetal chromosomal abnormalities were 52.5% (31/59), 44.8% (13/29) and 75.0% (6/8), respectively, which were respectively higher than those of 4.7% (8/172) of advanced pregnancy alone, 5.5% (15/273) of maternal serum screening tests alone, and 10.1% (20/198) of fetal ultrasonic soft indexes alone, and the differences were statistically significant (χ²=71.80, 48.21, 23.78; all with P<0.001). ④ The analysis of ROC curve results showed that the area under curve (AUC) and sensitivity of screening fetal chromosomal abnormalities in the advanced pregnancy combined with NIPT were higher than those in the advanced pregnancy, and the differences were statistically significant (P<0.05). To the fetal ultrasonic soft indexes combined with NIPT screening for fetal chromosomal abnormalities, the AUC was higher than that of fetal ultrasonic soft indexes alone, the specificity was higher than that of NIPT alone, and the differences were statistically significant (P<0.05). There were no significant differences between maternal serum screening tests combined with NIPT and one of them alone in AUC, sensitivity and specificity (P>0.05).

Advanced pregnancy combined with NIPT can effectively reduce the use of interventional prenatal diagnosis. Maternal serum screening tests combined with NIPT can reduce the cost of screening fetal chromosomal abnormalities. Fetal ultrasonic soft indexes combined with NIPT has the best efficiency in diagnosing fetal chromosomal abnormalities.