产前诊断21-三体综合征及其相关高危因素分析

Analysis of the relationship between prenatal diagnosis of fetal trisomy 21 and the clinical risk factors

目的探讨21-三体综合征产前诊断及其相关高危因素。方法 2005年1月至2012年12月来我院行产前诊断确诊胎儿染色体核型为21-三体的病例共计76例,分析其病史,超声检查及染色体核型结果。结果 76例确诊病例中21-三体综合征染色体核型标准型67例,嵌合型3例,易位型6例。确诊病例中产前诊断的高危因素唐筛高危者26例,高龄患者22例,超声提示结构异常或存在超声软指标患者55例,不良孕史6例。其中仅为单一高危因素的46例,其中唐筛高危16例,超声提示结构异常或存在超声软指标25例,高龄4例,不良孕史1例;合并两种或两种以上高危因素的30例,且均合并超声因素。超声高危因素55例中胎儿存在结构异常的有11例,占20%,而存在超声软指标的有44例,占80%。结论对孕妇产前筛查不仅要重视血清学筛查,还要特别强调孕期各个阶段的超声筛查,尤其是超声软指标的检查,两者结合可有效的提高21-三体胎儿的筛查检出率。

Objective： To explore the relationship between prenatal diagnosis of fetal trisomy 21 and the clinical risk factors. Methods： The clinical data of 76 cases confirmed fetal trisomy 21 by prenatal diagnosis during Jan 2005 to Dec 2012 in Hebei General Hospital were selected. The associations between the chromosomal karyotypes, clinical data and ultrasound results were analyzed. Results： Among 76 confirmed cases, there were 67 cases which chromosomal karyotype of Down syndrome were standard karyotype, 3 cases mosaicism karyotype, 6 cases translocation karyotype. The clinical risk factors of all cases included high risk of Down syndrome screening （26 cases） , advanced maternal age （22 cases, age ：〉35 ） , ultrasound abnormalities or positive ultrasound markers （55 cases） , abnormal pregnancy history （6 cases） . Cases of only one risk factor were 46, including high risk of Down syndrome screening （ 16 cases） , ultrasound abnormalities or positive ultrasound markers （25 cases） , advanced maternal age （4 cases ） , abnormal pregnancy history （ 1 cases） . Cases of two or more than two kinds of high-risk merger factors were 30, all with ultrasound factors. 55 cases of ultrasound risk factors included 11 cases （20%） of fetal ultrasound abnormalities, 44 cases （80%） of fetal positive ultrasound markers. Conclusions： Not only serum screening, but also effective ultrasonic screening especial in ultrasound markers are important for Down syndrome screening. The combination of them can effectively improve detectable rate of Down syndrome screening.