【摘要】 目的探讨羊水细胞染色体异常核型与产前诊断指征的关系;为产前遗传咨询提供客观的实验依据。方法选取645例具备产前诊断指征的妊娠妇女,行羊膜腔穿刺术及羊水细胞染色体核型检测。结果羊水细胞培养成功率为100%。检出异常核型31例,异常率为4.8%。21三体占全部异常核型检出率的35.5%,近三分之一的孕妇伴有超声软指标异常。以超声软指标异常及夫妇一方染色体异常和生育胎儿畸形史为指征的异常染色体检出率明显高于高龄妊娠、血清筛查高风险和21三体史。结论①高龄孕妇及血清学筛查高风险都有进行产前诊断的必要性,尤其对伴有超声软指标异常者,建议其行产前诊断;②21三体占全部异常核型检出率的35.5%,应重视21三体产前筛查及诊断,以避免漏诊。更多还原

【Abstract】 Objective This study investigated the relationship between the human chromosomal abnormal karyotypes and prenatal diagnosis indication, in order to provide the objective experimental evidence useful for prenatal genetic counseling. Methods The chromosomal karyotypes of 645 cases of amniocentesis with prenatal diagnosis indication were analyzed. Results The success rate of amniotic cell culture was 100%.Chromosomal aberrations were observed in 31 (4.8%) cases. Down syndrome fetuses account for 35.5% Chromosomal aberrations in our study, nearly one third of which with abnormal soft markers in ultrasound examination. The corresponding relevance ratio of abnormal karyotype of the cases with abnormal soft markers in ultrasound examination and those with chromosomal abnormal karyotype in one of the couple and fetal malformation in previous pregnancies are significantly higher than other groups. Conclusion Prenatal diagnosis should be implemented for all pregnant women with high risk factors, especially those with abnormal soft markers in ultrasound examination. We should pay more attention to the prenatal diagnosis of Down syndrome.更多还原