目的探讨孕早中期采用超声序贯血清学检测对筛查21三体综合征的意义。方法应用超声检测8375例孕11~13+6周孕妇胎儿颈项透明层厚度（NT）及鼻骨（NB）情况，应用时间分辨荧光免疫法检测孕14~20+6周孕妇血清甲胎蛋白（AFP）及游离人绒毛膜促性腺激素β亚单位（Free β-hCG）水平。对筛查结果为高危的孕妇的绒毛或羊水样本进行核型检测。并对其进行随访，观察妊娠结局。结果孕早期超声检查联合孕中期血清学筛查，其灵敏度（88.46%）、特异度（99.96%）较单独超声或血清学筛查均显著升高（P＜0.05），假阳性率（76.77%）与假阴性率（0.04%）均降低（P＜0.05）。结论孕早期超声检查联合孕中期血清学筛查可以提高21-三体综合征产前筛查的灵敏度和特异度，降低假阳性率和假阴性率，可以广泛开展。%Objective To investigate the significance of ultrasonography combined with serological detection in the screening of trisomy 21 in early and middle trimester of pregnancy. Methods 8 375 cases of 11~13+6 weeks pregnant were tested thfetal nuchal translucency (NT) and nasal bone (NB) by ultrasound, using time-resolved lfuorescence immunoassay in detection of pregnancy 14~20+6 weeks pregnant women serum alpha fetoprotein (AFP) and free human chorionic gonadotropinβsubunit (freeβ-hCG) level. Karyotype detection in high-risk pregnant women. The pregnancy outcome was observed. Results The sensitivity (88.46%) and speciifcity (99.96%) of combined screening were signiifcantly higher than those of single screening (P<0.05), false positive rate (76.77%) and false negative rate (0.04%) were signiifcantly lower (P<0.05).Conclusion Early pregnancy ultrasonography combined with mid trimester serological screening can improve the sensitivity and speciifcity of prenatal screening for trisomy 21, reduce false positive rate and false negative rate, can be widely carried out.
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