超声软指标联合母体血清甲胎蛋白和人绒毛膜促性腺激素筛查胎儿染色体异常

目的 观察孕中期超声软指标联合检测血清甲胎蛋白（AFP）和人绒毛膜促性腺激素（HCG）用于筛查胎儿染色体异常的价值。方法 对1 625名接受孕中期产前检查孕妇以常规腹部超声检测胎儿超声软指标，采用免疫层析法检测母体血清AFP和HCG。将胎儿多个超声软指标（≥2个）阳性者归为高危孕妇（高危组），行羊膜腔穿刺术及羊水细胞染色体核型检查；对低危孕妇进行产后随访，与筛查结果进行对比。结果 共检出64胎胎儿染色体异常，包括染色体数目异常35胎、结构异常29胎。于高危组167名中发现40胎胎儿染色体异常，包括染色体数目异常23胎、结构异常17胎。母体血清AFP及HCG水平筛查胎儿染色体异常的敏感度分别为64.60%和98.50%，特异度分别为66.00%和14.40%，曲线下面积（AUC）分别为0.701和0.788，截断值分别为56.24 ng/ml和19.36 ng/ml；母体血清AFP联合HCG筛查胎儿染色体异常的敏感度为71.88%，特异度为93.66%，AUC为0.796。超声软指标联合检测母体血清AFP、HCG诊断胎儿染色体异常的敏感度均高于单项指标（P均<0.05）。结论 孕中期超声软指标联合母体血清AFP、HCG检测可提高检出胎儿染色体异常的敏感度，有效筛选胎儿染色体异常的高危孕妇。

Ultrasound soft indexes combined with maternal serum alpha-fetoprotein and human chorionic gonadotropin in screening fetal chromosome abnormality

Objective To explore the value of ultrasound soft indexes combined with maternal serum alpha-fetoprotein (AFP) and human chorionic gonadotropin (HCG) in screening fetal chromosomal abnormality during the second trimester of pregnancy. Methods Prenatal ultrasonic examinations were performed in 1 625 pregnant women on the second trimester of pregnancy. Routine abdominal ultrasonography was used to detect the ultrasound soft indexes, while serum AFP and HCG were detected with immunochromatographic methods. When the fetuse was found with 2 or more ultrasound soft markers positive, the pregnant woman was enrolled in high-risk group, who then underwent amniocentesis and chromosomal karyotype of amniotic fluid cells. The low-risk pregnant women were followed up after delivery, and the results of screening were compared. Results A total of 64 fetuses were diagnosed with chromosomal abnormalities, including 35 with chromosomal number abnormalities and 29 with chromosomal structure abnormalities. Ultrasound soft indexes showed that 167 pregnant women in high risk grou and 40 fetuses with chromosomal abnormalities, including 23 with chromosomal number abnormalities and 17 with chromosomal structure abnormalities. The sensitivity of serum AFP and HCG levels for screening fetal chromosomal abnormalities was 64.60% and 98.50%, the specificity was 66.00% and 14.40%, the area under the curve (AUC) was 0.701 and 0.788, the truncation value was 56.24 ng/ml and 19.36 ng/ml, respectively. The sensitivity of serum AFP combined with HCG in screening fetal chromosomal abnormalities was 71.88%, the specificity was 93.66%, and AUC was 0.796. The sensitivity of combination of ultrasound soft indexes, serum AFP and HCG for screening fetal chromosomal abnormalities was higher than that of each single index (all P<0.05). Conclusion Ultrasound soft indexes during the second trimester of pregnancy combined with maternal serum AFP and HCG could improve the sensitivity of detecting fetal chromosomal abnormalities and effectively screen high-risk pregnant women.