探讨胎儿超声软指标对胎儿染色体异常的预测价值。

选择2017年1月至2021年12月于南京医科大学附属无锡妇幼保健院进行胎儿染色体检测的123例胎儿为研究对象。采取回顾性分析方法，根据胎儿染色体检测结果，将其分为染色体异常组(n＝23)与染色体正常组(n＝100)。采用彩色多普勒超声检查，对2组胎儿于早孕期(胎龄为11~13周)检查颈项透明层(NT)厚度，于中孕期(胎龄为18~27周)，检查脐静脉导管a波反向、左心室灶状强回声、肠道回声增强、脉络膜囊肿、肱/股骨偏短、侧脑室增宽、肾盂分离等超声软指标，并进行统计学研究。于胎龄为18~20周时，在超声穿刺探头引导下行羊膜腔穿刺术取样，对2组胎儿进行胎儿染色体检测。2组胎儿各项超声软指标异常率比较，采用χ²检验或连续性校正χ²检验或Fisher确切概率法。采用多因素非条件logistic回归分析影响胎儿染色体异常的相关因素。采用受试者工作特征(ROC)曲线分析胎儿超声软指标对胎儿染色体异常的预测价值。本研究遵循的程序符合南京医科大学附属无锡妇幼保健院伦理委员会规定，并通过该伦理委员会审查及批准(审批文号：2022-06-0714-28)，与孕母签署临床研究知情同意书。2组胎儿早、中孕期超声检查时胎龄及母亲年龄等一般临床资料比较，差异均无统计学意义(P>0.05)。

①染色体异常组胎儿超声软指标异常为17例(73.9%)，染色体正常组为12例(12.0%)。染色体异常组胎儿肠道回声增强和NT增厚发生率均为26.1%(6/23)，均显著高于染色体正常组的1.0%(1/100)与4.0%(4/100)，并且差异均有统计学意义(χ²＝7.78、9.43，P＝0.005、0.002)。②多因素非条件logistic回归分析结果显示，胎儿产前超声提示肠道回声增强与NT增厚等超声软指标异常，均为影响胎儿发生染色体异常的独立危险因素(OR＝5.392、5.557，95%CI：1.843~15.776、1.899~16.257，P＝0.005、0.009)。③胎儿产前超声提示肠道回声增强联合NT增厚预测胎儿染色体异常的曲线下面积(AUC)为0.776(95%CI：0.654~0.898，P<0.001)。

胎儿产前超声提示胎儿肠道回声增强和NT增厚等超声软指标，均与胎儿染色体异常关系密切，这2项超声软指标联合检测，对于胎儿染色体异常的预测价值中等。

To explore the predictive value of detection of fetal ultrasound soft indexes in fetal chromosomal abnormalities.

A total of 123 fetuses who underwent fetal chromosome detection at Wuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University from January 2017 to December 2021 were selected in study. According to the results of fetal chromosome detection, they were divided into abnormal chromosome group (n=23) and normal chromosome group (n=100) by retrospective analysis method. All fetuses in two groups received color Doppler ultrasound to detect thickness of nuchal translucency (NT) at 11 to 13 weeks of gestation, and the other fetal ultrasound soft indexes such as umbilical venous catheter a-wave reverse, left ventricular focal hyperecho, intestinal echo enhancement, choroidal cyst, short humerus/femur, lateral ventricle widening, and separation of renal pelvis were detected at 18 to 27 weeks of gestation by color Doppler ultrasound. At 18-20 weeks of gestation, amniotic cavity puncture under the guidance of ultrasonic puncture probe was conducted for fetal chromosome detection. The incidence of fetal ultrasound soft indexes abnormalities between two groups was compared by chi-square test or continuity correction chi-square test or Fisher′s exact probability test. Multivariate unconditional logistic regression analysis was conducted to analyze influencing factors of fetal chromosomal abnormalities. Receiver operating characteristic (ROC) curve was used to evaluate the value of fetal ultrasound soft indexes for predicting fetal chromosomal abnormalities. The procedure followed in this study conformed to the regulations of the Ethics Committee of Wuxi Maternal and Child Health Hospital Affiliated to Nanjing Medical University, and was approved by this committee (Approval No. 2022-06-0714-28). All mothers of fetuses signed informed consents for clinical study. There were no statistical differences between two groups in general clinical data, such as gestational age at ultrasound detection in the first and second trimester of pregnancy and mother′s age, and so on (P>0.05).

①There were 17 cases (73.9%) of fetal ultrasound soft indexes abnormalities in abnormal chromosome group and 12 cases (12.0%) in normal chromosome group. The incidence of fetal intestinal echo enhancement and NT thickening in abnormal chromosome group both was 26.1% (6/23), which was significantly higher than 1.0% (1/100) and 4.0% (4/100) in normal chromosome group, and both the differences were statistically significant (χ²=7.78, 9.43; P=0.005, 0.002). ②Multivariate unconditional logistic regression analysis results showed that fetal ultrasound found intestinal echo enhancement and NT thickening both were independent risk factors of chromosomal abnormalities in fetus (OR=5.392, 5.557; 95%CI: 1.843-15.776, 1.899-16.257; P=0.005, 0.009). ③Area under the curve (AUC) of fetal intestinal echo enhancement combined with NT thickening in fetal ultrasound for predicting fetal chromosomal anomalies was 0.776 (95%CI: 0.654-0.898, P<0.001).

Fetal ultrasound soft indexes including fetal intestinal echo enhancement and NT thickening both are closely related to fetal chromosomal abnormalities. The combination detection of these two fetal ultrasound soft indexes in predicting fetal chromosomal abnormalities is of medium value.