摘要
目的探讨联合高龄和超声异常因素对唐氏综合征产前血清学筛查检出染色体异常的影响。方法对2005年1月至2010年4月1598例因唐氏综合征产前血清学筛查高风险来中山大学附属第一医院就诊的患者行胎儿染色体核型分析,分成血清学筛查高风险组、血清学筛查高风险合并高龄组、血清学筛查高风险合并超声异常组和血清学筛查高风险合并高龄、超声异常组4组,分析和比较各组染色体异常检出情况。结果血清学筛查高风险合并高龄、超声异常组和血清学筛查高风险合并超声异常组的21三体阳性率和染色体异常率均显著高于血清学筛查高风险组;血清学筛查高风险合并高龄组的21三体阳性率和染色体异常率与血清学筛查高风险组的差异无统计学意义;血清学筛查高风险合并高龄、超声异常组的21三体阳性率显著高于血清学筛查高风险合并超声异常组。结论唐氏综合征产前血清学筛查高风险合并其他产前诊断指征越多,患唐氏综合征的可能性越大,其中超声异常影响最大,高龄影响较小。
Objective：To investigate the influence of detecting chromosomal abnormalities in prenatal serological screening for Down′s syndrome when combined with factors of advanced age and ultrasonic abnormalities.Methods：1598 cases were chosen.All patients were done fetal karyotype analysis for high risk of prenatal serological screening for Down′s syndrome.They were divided into four groups： high risk of serological screening,high risk of serological screening complicating with advanced age,high risk of serological screening complicating with ultrasonic abnormalities and high risk of serological screening complicating with advanced age and ultrasonic abnormalities.Compare the detection of chromosomal abnormalities in the groups.Results：Positive rate of trisomy 21 and chromosome abnormal rate were significant higher in high risk of serological screening complicating with ultrasonic abnormalities group and high risk of serological screening complicating with advanced age and ultrasonic abnormalities group than in high risk of serological screening group.No differences were found in positive rate of trisomy 21 and chromosome abnormal rate in high risk of serological screening group and high risk of serological screening complicating with advanced age group.Positive rate of trisomy 21 was significant higher in high risk of serological screening complicating with advanced age and ultrasonic abnormalities group than in high risk of serological screening complicating with ultrasonic abnormalities group.Conclusions：The more indications of prenatal diagnosis patients with high risk of prenatal serological screening for Down′s syndrome had,the greater possibility of being Down′s syndrome they had.Ultrasonic abnormalities had a greatest effect on detecting Down′s syndrome while advanced age had a less effect.
出处
《中国优生与遗传杂志》
2011年第10期48-49,39,共3页
Chinese Journal of Birth Health & Heredity
关键词
唐氏综合征
血清学筛查
高风险
染色体异常
Down′s syndrome
Serological screening
High risk
Chromosomal abnormalities
