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目的:观察孕早期胎儿颈项透明层(NT)超声检查联合母体血清癌胚抗原(AFP)、游离人绒毛膜促性腺激素(F-β-HCG)检测应用于诊断胎儿发育异常的临床价值。方法:选取2015年3月至2019年3月于诸暨市人民医院定期接受产前检查的孕早期女性2 000例为研究对象，所有研究对象于孕11～13n ＋6周进行胎儿NT超声检测，并于孕16～20n ＋6周进行母体血清AFP和F-β-HCG水平检测，对所有研究对象进行随访，确认胎儿发育情况，统计分析各种检测方法的灵敏度、准确度、特异性、阳性预测值和阴性预测值，评估对于胎儿发育异常的诊断效能。n 结果:在2 000例中，胎儿发育异常39例，异常发生率为1.95%；男性胎儿与女性胎儿孕早期NT检测值差异无统计学意义(n t＝0.326，n P＝0.617)，年龄≥35岁孕妇胎儿NT检测值(2.39±0.79)mm，显著高于年龄0.05). The NT detection value in pregnant women aged≥35 years [(2.39±0.79)mm] was significantly higher than that of pregnant women aged<35 [(1.76±0.65)mm] (n t=2.958, n P=0.013). The NT value of abnormal fetal development [(3.48±0.83)mm] was significantly higher than that of normal fetal fetuses [(1.49±0.67)mm], and the difference was statistically significant (n t=6.724, n P=0.000). The diagnostic sensitivity, specificity and accuracy of fetal NT detection for fetal dysplasia in the early pregnancy (84.61%, 98.27%, 98.00%) were higher than those of maternal serum biochemical indicators in the middle pregnant women (56.41%, 96.43%, 95.65%), while the diagnostic sensitivity of fetal NT combined with maternal serum biochemical indicators in the early pregnancy (97.44%) was significantly higher than that of the single detection methods (84.61% and 56.41%). The diagnostic specificity and accuracy of the combined detection (94.75%, 94.38%) were lower than the single test method (98.27% and 96.43%, 98.00% and 95.65%).n Conclusion:The NT thickening of fetus in the early pregnancy is closely related to fetal development abnormality.The detection of serum biochemical indicators of the maternal fetal NT in the early pregnancy can improve the detection sensitivity of fetal dysplasia, and effectively prevent the abnormal fetus from abnormal development.It is worthy of popularizing in the clinical prenatal examination.