摘要
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 study the significance of chorionic villus karyotype analysis for abnormal early pregnancy ultrasound screening.Methods： Chorionic villus karyotype analysis were done for 65 cases of abnormal early pregnancy ultrasound screening of pregnant women.Results： 28 cases of abnormal karyotypes were detected in 65 cases of fetal chorionic villus karyotypes from pregnant women with abnormal early pregnancy ultrasound screening.The abnormal rate was 43.08%,the mainly abnormal karyotypes were trisomy 18,trisomy 21 and 45,X.Of the indications of abnormal ultrasound systemic subcutaneous edema was found in 7 cases,5 cases of them had abnormal karyotypes;systemic subcutaneous edema associated with other abnormalities in 9 cases,8 cases with abnormal karyotypes;embryo damage in 11 cases,6 cases with abnormal karyotypes;nasal bone abnormalities associated with other abnormalities in 3 cases,2 cases with abnormal karyotypes;nuchal translucency thickening in 18 cases,4 cases with abnormal karyotypes;nuchal translucency thickening associated with other abnormalities in 6 cases,4 cases with abnormal karyotypes;multiple malformations in 8 cases,3 cases with abnormal karyotypes;lymph hygroma in 1 case with abnormal karyotype.Conclusions： Pregnant women with abnormal early pregnancy ultrasound screening had a high abnormal rate of fetal chromosome.It was necessary to do chorionic villus karyotype analysis for them.
出处
《中国优生与遗传杂志》
2011年第4期35-36,共2页
Chinese Journal of Birth Health & Heredity
关键词
早孕期
超声筛查异常
绒毛
核型分析
Early pregnancy
Abnormal ultrasound screening
Chorionic villus
Karyotype analysis
