胎儿脐血染色体异常与超声异常改变的相关性

The relationship between abnormal chromosome of fetal cord blood and abnormal changes of ultrasound

目的探讨胎儿脐血染色体异常与超声异常改变的关系,为临床遗传咨询和产前诊断提供依据。方法2005年1月至2008年12月于北京大学人民医院产前诊断中心对155例孕妇行超声引导下经腹脐静脉穿刺术,并进行染色体核型分析。结果155例孕妇中超声异常改变114例。在155例脐带血检查对象中,培养成功152例(98.06%),发现染色体异常17例(10.97%),其中16例有超声异常改变,三体综合征为主要染色体异常(16例),染色体核型异常中心脏结构异常14例。结论超声异常改变是产前遗传学诊断的重要指征,其中超声心脏结构异常是胎儿脐血染色体检查的重要指标。

Objective To investigate the relationship between abnormal chromosome of fetal cord blood and abnormal changes of ultrasound, and add basis data for clinical genetic consultation and prenatal diagnosis. Methods Umbilical cords were punctured under ultrasound in 155 pregnant women and the abnormal karyotypes.were analyzed at the Center of Prenatal Diagnosis, the Peopleg Hospital Peking University between January 2005 and December 2008. Results There were 114 cases of abnormal ultrasonic changes in them. The successful rate of culture is 152 cases in 155 cases （98.06%） , there were 17 cases abnormal chromosome （ 10. 97% ）. There were 16 cases in abnormal changes of ultrasound, Trisomy is the leading abnormal in abnormal karyotypes （16 cases）. There were 14 cases of Cardiac structural abnormality in the chromosomal karyotype abnormalities. Conclusion Changes of abnormal ultrasound is an important sign in prenatal genetic diagnosis, and the cardiac structural abnormality is one of the important signs in prenatal diagnosis.