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目的探讨早孕期超声异常联合绒毛染色体核型分析的临床应用价值,同时分析各种超声异常指标的染色体异常率。方法对134例早孕期胎儿超声筛查异常的病例,行超声介导下绒毛活检术及G显带染色体核型分析。根据胎儿异常超声征象的类型,分为单纯软指标异常组(95例)和结构异常组(39例)两组。比较两组间以及各个超声异常的染色体异常率。结果 134例绒毛标本中均成功行G显带染色体核型分析。共检出异常核型38例,染色体异常率为28.4%(38/134)。染色体异常主要为三体和单体异常,共检出29例,占异常核型的76.3%(29/38)。结构异常组染色体异常率为(46.2%,18/39)较单纯软指标异常组(21.1%,20/95)高,两者的差异具有统计学意义(P<0.05)。单纯软指标异常组中胎儿颈项透明层(nuchal translucency,NT)增厚及鼻骨缺失占绝大部分,染色体异常率分别为28.1%(20/65)和19.4%(6/31)。多发软指标异常胎儿染色体异常率(66.7%,12/18)较单纯软指标异常胎儿(10.4%,8/77)高,两者的差异具有统计学意义(P<0.05)。超声结构异常组中以胎儿多发畸形和胎儿水肿综合征为主,染色体异常率分别为57%(8/14)和87.5%(7/8)。结论早孕期胎儿超声筛查异常对染色体异常有较高的预测价值,其中超声结构异常胎儿染色体异常率高于单纯软指标异常胎儿。对超声筛查异常胎儿行绒毛染色体核型分析可在早孕期有效地诊断胎儿染色体异常。
Objective To investigate the clinical value of combined karyotype analysis of abnormalities of villus and chorionic villi in early pregnancy and to analyze the chromosomal abnormalities of various abnormal indexes of ultrasound. Methods A retrospective study was conducted on 134 cases of abnormal fetal ultrasound screening during early pregnancy. Ultrasound-guided villus biopsy and G-banding karyotype analysis were performed. According to the types of abnormal fetal ultrasound signs, there are two groups: simple soft index abnormal group (95 cases) and abnormal structural group (39 cases). The rates of chromosomal abnormalities between the two groups and among the various ultrasound abnormalities were compared. Results 134 cases of villus specimens were successfully performed G-banding karyotype analysis. A total of 38 abnormal karyotypes were detected, with a chromosomal abnormality rate of 28.4% (38/134). Chromosomal abnormalities were mainly trisomy and monosomy, a total of 29 cases were detected, accounting for 76.3% (29/38) of the abnormal karyotype. The rate of chromosomal aberration in the abnormal structure group was higher than that in the simple soft index group (21.1%, 20/95) (46.2%, 18/39). The difference between the two groups was statistically significant (P <0.05). The nuchal translucency (NT) thickening and nasal bone loss accounted for the vast majority of abnormal soft index abnormalities, with chromosomal abnormalities of 28.1% (20/65) and 19.4% (6/31), respectively. The rate of fetal chromosomal abnormalities with multiple soft index abnormalities (66.7%, 12/18) was higher than that of simple soft index abnormal fetuses (10.4%, 8/77). The difference between the two groups was statistically significant (P <0.05). In the abnormal ultrasound group, the majority of fetal malformations and fetal edema syndromes were chromosomal abnormalities of 57% (8/14) and 87.5% (7/8), respectively. Conclusion Fetal ultrasound screening in early pregnancy has a high predictive value for chromosomal abnormalities. Among them, the rate of fetal chromosomal abnormalities in ultrasound structural abnormalities is higher than those in simple soft index abnormal fetuses. Fetal chromosomal karyotype analysis of abnormal fetus screening of ultrasound can effectively diagnose fetal chromosomal abnormalities in early pregnancy.