超声软指标异常与胎儿染色体病的相关性及预后分析

Analysis on correlation between abnormality of ultrasonographic soft markers and fetal chromosomal diseases and the prognosis

目的:分析超声软指标异常与胎儿染色体病的相关性及预后,探讨其临床价值。方法:对产前诊断病例中产前诊断指征为超声软指标异常的585例孕妇进行追踪,同时选取295例产前诊断指征仅为夫妻双方同型地中海贫血的孕妇作为对照组,分析胎儿的染色体检查情况及转归。结果:585例软指标异常的胎儿中有36例染色体异常,其中包括10例21三体和1例Turner综合征(X单体),其余均为染色体结构异常。295例软指标阴性的胎儿中有11例染色体结构异常,无非整倍体胎儿。孤立软指标中的颈项软组织增厚、长骨短小以及多项软指标阳性的胎儿非整倍体的风险增高。结论:超声软指标阳性者提示胎儿非整倍体风险增加,染色体结构异常风险不增加。孤立软指标中的颈项软组织增厚、长骨短小以及多项软指标阳性的孕妇应行侵入性产前诊断。

Objective： To analyze the correlation between abnormality of uhrasonographic soft markers and fetal chromosomal diseases and the prognosis, and explore the clinical value. Methods： A total of 585 pregnant women who were found with abnormality of ultrasonographic soft markers during prenatal diagnosis were followed up, 295 pregnant women with thalassemia of the same type as indication of prenatal diagnosis were selected as control group ; the outcome of fetal chromosomal examination was analyzed. Results ： Among 585 fetuses with positive ultrasonographic soft markers, 36 fetuses were found with chromosomal abnormalities, including ten fetuses with trisomy 21, one fetus with Turner syndrome （monosome X） , and the other fetuses were found with chromosomal structural abnormality. Among 295 fetuses with negative ultrasonographic soft markers, 11 fetuses were found with chromosomal structural abnormality, no aneuploid fetus was found. The risk of aneuploid in fetuses with thickening of neck soft tissue, long bone dysplasias, and multiple negative soft markers among isolated soft markers increased. Conclusion： Positive uhrasonographic soft markers indicate increase of risk of fetal aneuploid, while the risk of chromosomal structural abnormality doesnt increase. The pregnant women with thickening of neck soft tissue, long bone dysplasias, and mul- tiple negative soft markers among isolated soft markers should receive invasive prenatal diagnosis.