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目的探讨早孕期超声筛查异常行绒毛核型分析的意义。方法对65例早孕期超声筛查发现异常的孕妇行绒毛核型分析。结果在65例早孕期超声筛查异常孕妇的胎儿绒毛核型中,检出异常核型28例,异常率为43.08%,主要为18-三体、21-三体和45,X。在异常的超声指征中,全身皮下水肿7例,5例核型异常;全身皮下水肿合并其他异常9例,8例核型异常;胚胎停育11例,6例核型异常;鼻骨异常合并其他异常3例,2例核型异常;NT增厚18例,4例核型异常;NT增厚合并其他异常6例,4例核型异常;多发畸形8例,3例核型异常;淋巴水囊瘤1例有核型异常。结论早孕期超声筛查异常孕妇的胎儿染色体异常率高,对其行绒毛核型分析是必要的。
Objective To investigate the significance of abnormal chordal karyotype analysis in early pregnancy by ultrasound screening. Methods 65 cases of early pregnancy ultrasound screening of abnormal pregnant women were observed chorionic karyotype analysis. Results In 65 cases of fetal chorionic karyotype of abnormal pregnant women with abnormal screening in early pregnancy, 28 cases were detected abnormal karyotype, the abnormal rate was 43.08%, mainly 18- trisomy, 21- trisomy and 45x. In the abnormal signs of ultrasound, systemic subcutaneous edema in 7 cases, 5 cases of karyotype abnormalities; systemic subcutaneous edema in 9 cases with other abnormalities, 8 cases of karyotype abnormalities; embryo suspension in 11 cases, 6 cases of abnormal karyotype; abnormal nasal bone merger Other abnormalities in 3 cases, 2 cases of abnormal karyotype; NT thickening in 18 cases, 4 cases of karyotype abnormalities; NT thickening combined with other abnormalities in 6 cases, 4 cases of karyotype abnormalities; 8 cases of multiple deformities, 3 cases of karyotype abnormalities; lymph 1 case of cystic tumor karyotype abnormalities. Conclusion The abnormal rate of fetal chromosomal abnormalities in pregnant women with abnormal ultrasound screening in early pregnancy is high, which is necessary for their karyotype analysis.