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目的探讨胎儿颈项透明层增厚在胎儿结构畸形筛查中的应用价值。方法选取我院孕周在11-13+6w的颈项透明层增厚患者60例,对其进行回顾性分析和随访。结果 60例颈项透明层增厚的患者中,11例胎儿染色体核型异常,异常比例是18.33%。异常核型中:21-三体4例、18-三体2例、20-三体1例,45,XO 2例,47,XXY 2例。余49例正常染色体核型中,10例超声随诊发现有胎儿结构异常,32例随访未发现异常,7例失访。结论胎儿颈项透明层增厚与胎儿结构异常有密切相关性,孕早期检测颈项透明层厚度可作为筛查胎儿畸形的一个重要指标,及时诊断,降低出生缺陷儿的出生率,值得推广应用。
Objective To investigate the value of the thickening of the transparent layer of fetal neck in the screening of fetus structural deformity. Methods Sixty patients with thickened neck transparent layer in 11-13 + 6 weeks of gestation in our hospital were selected for retrospective analysis and follow-up. Results Sixty cases of thickened patients with cervical transparent layer, 11 cases of fetal karyotype abnormality, the abnormal proportion was 18.33%. Abnormal karyotype: 21-trisomy in 4 cases, 18-trisomy in 2 cases, 20-trisomy in 1 case, 45 cases of XO, 47 cases of XXY in 2 cases. Among the 49 cases of normal karyotypes, 10 cases were found with fetal structural abnormalities following sonographic follow-up. No abnormalities were observed in 32 cases and 7 cases were lost to follow-up. Conclusions The thickening of the transparent layer of the fetal neck is closely related to the abnormal fetal structure. The detection of the thickness of the transparent cervical layer in the early pregnancy can be used as an important index to screen fetal malformations. It is worth to popularize and apply to diagnose and reduce the birth rate of birth defects.