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目的通过孕期各类不同高危指征与产前诊断胎儿染色体异常及妊娠结局分析,提高产前检出率,以更好避免染色体异常患儿出生。方法对4028例孕期检查存在血清学筛查高风险、高龄、B超提示胎儿异常或不良孕产史等孕妇,妊娠期间通过羊膜腔穿刺或脐血穿刺进行细胞培养及染色体核型分析,综合分析高危指征与胎儿染色体异常的关系。结果4028例拥有上述一项或多项高危因素并接受产前诊断的病例中,共检出胎儿染色体异常117例,异常检出率为2.90%,其中三体综合征共57例,占胎儿异常核型的48.72%;性染色体数目异常共28例,占胎儿异常核型的23.93%;染色体结构异常30例及2例47,XN,+mar,占胎儿的异常染色体核型27.35%。结论母体血清学筛查高风险及高龄、B超提示胎儿异常或存在不良孕产史等孕妇,应建议产前诊断以确诊胎儿是否存在染色体异常,避免缺陷患儿出生。
Objective To improve the prenatal detection rate through various types of high-risk indications during pregnancy and prenatal diagnosis of fetal chromosomal abnormalities and pregnancy outcomes in order to better avoid the birth of children with chromosomal abnormalities. Methods A total of 4028 pregnant women with high risk of serological screening, elderly, B-fetus showed abnormal fetus or poor pregnancy history and other pregnant women, during pregnancy by amniocentesis or cord blood cell culture and karyotype analysis, a comprehensive analysis Relationship between high risk indications and fetal chromosomal abnormalities. Results A total of 4028 fetuses with one or more of the above risk factors and receiving prenatal diagnosis were examined. 117 cases of fetal chromosomal abnormalities were detected, the rate of abnormality was 2.90%, of which 57 cases were trisomy syndrome, accounting for fetal abnormalities 48.72% of karyotype; 28 cases of abnormal sex chromosome number, accounting for 23.93% of fetal abnormal karyotype; 30 cases of chromosomal abnormalities and 2 cases of 47, XN, + mar, accounting for 27.35% of abnormal fetal karyotype. Conclusion Maternal serological screening of high risk and age, B-ultrasound prompts fetal abnormalities or the existence of adverse pregnancy history and other pregnant women, prenatal diagnosis should be recommended to confirm the presence of fetal chromosomal abnormalities, to prevent birth defects in children.