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目的采用羊水细胞培养作染色体核型分析,对妊娠中期符合产前诊断指征的高危孕妇作出产前诊断,防止染色体病患儿的出生。方法506例妊娠17～25周的孕妇进行羊膜腔穿刺术并进行细胞培养染色体核型分析。结果羊水细胞培养成功率99%,检出染色体异常34例,包括4例21-三体,1例18-三体,13号染色体缺失1例,2倍体3倍体嵌合体1例,及其他染色体结构异常27例。结论对高危胎儿进行羊水细胞培养染色体检查,能安全、有效地对胎儿染色体异常进行产前诊断,对指导优生优育具有重要作用。
OBJECTIVE: To use amniotic fluid cell culture for chromosome karyotype analysis to make prenatal diagnosis of high-risk pregnant women who meet the requirements of prenatal diagnosis during the second trimester of pregnancy so as to prevent the birth of children with chromosome disease. Methods 506 pregnant women with gestational age from 17 to 25 weeks underwent amniocentesis and cell karyotype analysis. Results The success rate of amniotic fluid cell culture was 99%. Chromosome abnormalities were detected in 34 cases, including 4 cases of 21-trisomy, 1 case of 18-trisomy, 1 case of chromosome 13 deficiency, 1 case of diploid 3-body chimera and Other chromosome abnormalities in 27 cases. Conclusion Chromosome examination of amniotic fluid cell culture in high-risk fetus can prenatal diagnosis of fetal chromosomal abnormalities safely and effectively, and plays an important role in prenatal and postnatal care.