产前筛查并染色体分析预防染色体病胎儿出生

Antenatal screening combined with chromosome analysis to prevent fetus birth with chromosome disease

目的对产前筛查和染色体分析预防染色体病胎儿出生的工作进行回顾性的总结，为今后减少出生缺陷提供指导。方法通过对优生咨询、血清筛查检出的高风险孕妇和超声筛查怀疑胎儿有染色体病的孕妇进行胎儿染色体分析，核型严重异常者终止妊娠。结果①优生咨询筛查出的高风险孕妇中接受染色体分析者372例，染色体异常检出率为4．57％（17／372），终止妊娠5例；②血清筛查孕妇共32848例，高风险2085例，筛查阳性率6．35％；染色体分析740例，染色体异常检出率为4．59％（34／740），终止妊娠18例；③超声筛查异常进行染色体分析177例，异常检出率为19．77％（35／177），终止妊娠32例；④染色体分析共1289例，异常检出率为6．67％（86／1289），数目异常50例全部终止妊娠，结构异常36例中有5例终止妊娠，终止妊娠率为4．27％（55／1289）。结论优生咨询、血清筛查、超声筛查组成的筛查体系结合染色体分析可提高染色体病的检出率，超声筛查的检出率最高；每位孕妇都应接受系统的产前筛查，高危孕妇应接受染色体分析，最大限度地避免染色体病胎儿出生。

Objective To retrospectively analyze the results of antenatal screening and chromosome analysis on the prevalence of fetus birth with chromosome disease so as to provide guidance for reducing birth defects in the future. Methods Fetal chromosomal analysis was done for high-risk pregnant women screened by eugenic consulation and serum screening and for those whose fetus were suspected to have chromosomal abnormalities detected by ultrasonography. Termination of pregnancy （TOP） was given to severe abnormal karyotype. Results Among the high-risk pregnant women screened by eugenic consulation, 372 cases received chromosome analysis, and the detection rate of chromosomal abnormality was 4.57% （17/372）. Five cases accepted TOP. There were 2 085 cases with high risk among 32 848 pregnant women receiving serum screening, and the positive rate was 6.35%. 740 cases received chromosomal analysis and the detection rate of chromosomal abnormality was 4.59% （34/740）. 18 cases accepted TOP. There were 177 cases detected with abnormality by ultrasound screening received chromosomal analysis, and the detection rate of chromosomal abnormality was 19.77% （35/177）. 32 cases accepted TOP. Chromosomal analysis was done for 1 289 cases, and the detection rate of abnormality was 6.67% （86/1 289）. Pregnancy of 50 cases with abnormal number of chromosomes was terminated. Five of 36 cases with structural chromosomal abnormality accepted TOP, and the rate of TOP was 4.27% （55/1 289）. Conclusion Combined with chromosome analysis, the screening system consisting of eugenic consulation, serum screening and ultrasound screening can improve the detection rate of chromosomal abnormality. The detection rate of ultrasound screening is highest. Every pregnant woman should receive systematic antenatal screening. High-risk pregnant women should receive chromosomal analysis to avoid fetus birth with chromosomal disease to greatest extent.