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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 To investigate prenatal screening and prenatal diagnosis in Foshan area. Methods From January 2006 to December 2008, 41 656 pregnant women who came to our hospital for prenatal examination were selected, of whom 29,010 were volunteered for serological screening, gestational age was 15 to 25 weeks and age ranged from 21 to 42 The average age is 25.73 years old. There were 41,333 routine ultrasound screening, gestational age 11 to 36 weeks. Down’s screening and B-screening results for high-risk pregnant women genetic counseling, diagnosis of prenatal diagnosis is recommended. Methods of prenatal diagnosis of amniotic fluid using amniotic fluid cell culture or umbilical cord blood cells through abdominal venipuncture cell culture, chromosome examination using G-band staining. Results Among 2 9101 pregnant women who screened for serum, 3227 patients were screened out with a high risk, the positive rate was 11.1%. Among them, 1287 cases were high risk of trisomy 21, accounting for 4.4%; 423 cases were high risk of trisomy 18, accounting for 1.45%. Of 3227 pregnant women who were at high risk for serologic screening, 1065 were diagnosed prenatally, accounting for 33% (1065/3227). 100 karyotype abnormalities, accounting for 12.49%, accounting for 4.12% of high-risk pregnant women (100/3227). Twenty-one of the 21 trisomy 21 and 2 trisomy 18 were detected, the detection rate was 1.97% (21/1065), accounting for 21% (21/100) of chromosomal abnormalities. There were 41,333 cases of ultrasound screening, 851 cases of high risk screening by ultrasound, the positive rate was 2.06%. Prenatal diagnosis of 206 cases, 45 cases of chromosomal abnormalities, accounting for 21.84% (45/206), which detected 21 trisomy 5, 18 trisomy 18, 13 trisomy 1, accounting for 31.11% of chromosomal abnormalities (14 / 45). Conclusion Maternal age, serological test and ultrasound screening as prenatal screening methods for Down’s syndrome significantly improve the positive rate of screening, screen the high-risk population through prenatal screening for prenatal diagnosis, Reduce the birth of defective children.