佛山地区产前筛查与产前诊断分析研究  

Research and analysis of Foshan prenatal screening and prenatal diagnosis

作　　者：邓璐莎[1] 郭晓玲[1] 钟进[1] 陈志华[1] 邓秀珍[1] 

机构地区：[1]佛山市妇幼保健院,广东528000

出　　处：《中国优生与遗传杂志》2012年第4期43-45,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的佛山地区产前筛查与产前诊断分析研究。方法选择自2006年1月～2008年12月来本院进行产前检查的孕妇共41 656例,其中有2 9101例自愿行血清学筛查,孕周为15～25周,年龄21～42岁,平均年龄为25.73岁。有41 333例行超声筛查,孕周11～36周。对唐氏筛查及B超筛查结果为高风险的孕妇进行遗传咨询,建议进行产前诊断确诊。产前诊断的方法采用羊膜腔穿刺羊水细胞培养或经腹脐静脉穿刺脐血细胞培养,染色体检查采用G带染色。结果在血清筛查2 9101例孕妇中,筛查出高风险3227例,阳性率为11.1%。其中21三体高风险1287例,占4.4%;18三体高风险423例,占1.45%。在血清筛查高风险的3227例孕妇中,接受产前诊断者1065例,占33%(1065/3227)。染色体核型异常者100例,占12.49%,占高风险孕妇的4.12%(100/3227)。其中21三体19例,18三体2例,检出率为1.97%(21/1065),占染色体核型异常的21%(21/100)。有41 333例行超声筛查,超声检查筛查出高风险851例,阳性率为2.06%。行产前诊断206例,染色体异常45例,占21.84%(45/206),其中检查出21三体5例,18三体8例,13三体1例,占染色体异常的31.11%(14/45)。结论将孕妇年龄、血清学检测和超声筛查作为产前筛查唐氏综合征的方法,明显提高了筛查阳性率,通过产前筛查将高风险的人群筛查出来作产前诊断,减少了缺陷儿出生。Objective： Research and analysis of Foshan prenatal screening and prenatal diagnosis.Methods： Since Jun.2006-Dec.2008 to our hospital for prenatal care of pregnant women a total of 41 656 cases,of which 29,101 cases of voluntary line serological screening,gestational age 15-25 weeks,age 21-42 Years,mean age was 25.73 years.Routine ultrasound screening has 41 333,gestational age 11-36 weeks.Down′s screening and B-ultrasound screening results for the high-risk pregnant women for genetic counseling,prenatal diagnosis confirmed the recommendations.Method of prenatal diagnosis by amniocentesis or transabdominal amniotic fluid cells cultured umbilical vein cord blood cell culture,chromosome with G band staining.Results： The screening of 29 101 cases in the serum of pregnant women in high-risk screening 3227 cases,the positive rate was 11.1%.High risk of trisomy 21 in which 1287 cases,accounting for 4.4%;high risk of trisomy 18 423 cases,accounting for 1.45%.Serum screening in the 3227 cases of high-risk pregnant women receive prenatal diagnosis were 1065 cases,accounting for 33%（1065/3227）.Abnormal karyotypes of 100 patients,accounting for 12.49%,accounting for 4.12% of high-risk pregnant women（100/3227）.There are 19 cases of trisomy 21,2 cases of trisomy 18 detection rate was 1.97%（21/1065）,a total of 21 cases of chromosome abnormalities 21%（21/100）.With 41 333 routine ultrasound screening,ultrasound screening for high risk of 851 cases,the positive rate was 2.06%.206 cases of prenatal diagnosis,chromosomal abnormalities in 45 cases,accounting for 21.84%（45/206）,Check out of 5 cases of trisomy 21,trisomy 18 in 8 cases,1 case of trisomy 13,accounting for 31.11% of chromosomal abnormalities（14/45）.Conclusion： The maternal age,serology testing and prenatal ultrasound screening for Down syndrome screening methods significantly improve the positive rate of screening,through prenatal screening,the screening out high-risk groups for prenatal diagnosis to reduce child birth defects.

关 键 词：唐氏综合征 产前筛查 产前诊断 超声筛查 

分 类 号：R714.55[医药卫生—妇产科学]