5675例产前诊断胎儿细胞染色体核型分析

Chromosome karyotype analysis on prenatal diagnosis of fetal cells in 5675 cases

目的了解柳州地区某医院产前诊断胎儿细胞染色体核型检查结果与不同产前诊断指征的关系及染色体异常胎儿的妊娠结局分析。方法回顾分析我院从2016年1月至12月有产前诊断指征,孕期根据不同孕周进行穿刺取羊水、脐血或绒毛进行细胞培养和染色体核型分析的5675个病例。结果 5675例进行产前诊断孕妇中,培养成功5668例,培养成功率为99.88%。染色体异常检出率为5.80%(329/5668),其中NIPT提示高风险、夫妇一方染色体异常、孕妇高龄(预产期年龄≥35岁)的孕妇胎儿染色体异常检出率较高,分别为68.52%(37/54)、21.84%(19/87)、6.64%(132/1988)。超声提示异常的胎儿染色体异常检出率为4.40%(20/454),中枢神经及颅面部异常最为常见,占所有超声异常的24.23%(110/454)。异常核型中,染色体多态占50%(10/20),但染色体异常例数较少。所有异常核型中,数目异常占45.59%(150/329),除7例Marker染色体胎儿选择继续妊娠,其余均终止妊娠。结构异常占8.51%(28/329),9例选择继续妊娠。染色体多态占32.87%(118/329),116例选择继续妊娠。结论应用多种方式对高危孕妇进行联合筛查,严格把握产前诊断指征,羊水、脐血及绒毛染色体核型分析作为产前诊断技术对于评估妊娠结局及指导优生优育具有重要意义。

Objective：Analysis the relationship between the fetal chromosomal abnormalities and high-risk factors,and analysis the pregnancy outcome of the fetal with abnormal chromosome karyotype. Methods：A total of 5675 cases who had the prenatal diagnosis indexes and agreed to do prenatal diagnosis in our hospital from January to December in 2016 were reviewed. Results：In the 5675 cases,successfully cultured 5668 cases,the success rate was 99.88%. The detection rate of chromosome abnormality was 5.80%（329/5668）. Among the pregnant women with Non-invasive prenatal test high risk,the couple has chromosome abnormality and advanced maternal age（Pregnancy age ≥35 years old）,the abnormal rates were 68.52%（37/54）,21.84%（19/87）,and 6.64% %（132/1988）respectively. The abnormal rate of fetal with ultrasound abnormal was 4.40%（20/454）. In the abnormal karyotype,chromosome polymorphism accounted for 50%（10/20）,but the number of chromosomal abnormalities was small. Of all the abnormal karyotypes,the number of abnormalities accounted for 45.59%（150/329）,except 7 cases of Marker chromosome fetus choose to continue pregnancy,the rest were terminated pregnancy. Chromosome structure abnormalities accounted for 8.51%（28/329）,9 patients choose to continue pregnancy. Chromosome polymorphism accounted for 32.87%（118/329）,116 patients choose to continue pregnancy. Conclusion：We should use a variety of ways to conduct a joint screening in high-risk pregnant women,strictly grasp the prenatal diagnosis indications. Amniotic fluid,umbilical cord blood and chorionic chromosome karyotype analysis as a prenatal diagnosis technique is important for assessing pregnancy outcomes and guiding eugenics.