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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 To understand the relationship between prenatal diagnosis of fetal cell karyotypes and different prenatal diagnosis indications in a hospital in Liuzhou and the analysis of pregnancy outcome in chromosomal abnormal fetuses. Methods A retrospective analysis of our hospital from January 2016 to December prenatal diagnosis of indications during pregnancy according to different gestational weeks to take amniotic fluid, umbilical cord blood or chorionic villi for cell culture and chromosome karyotype analysis of 5675 cases. Results 5675 cases of prenatal diagnosis of pregnant women, 5668 cases of successful training, the success rate of 99.88% training. The detection rate of chromosomal abnormalities was 5.80% (329/5668). Among them, NIPT showed a high risk of chromosomal abnormalities on one side of the couple. The detection rate of fetal chromosomal abnormalities was 68.52% (pregnant women) 37/54), 21.84% (19/87), 6.64% (132/1988). The detection rate of fetal chromosomal abnormalities was 4.40% (20/454). The abnormalities of central nervous system and craniofacial were the most common, accounting for 24.23% (110/454) of all the abnormalities. Abnormal karyotype, chromosome polymorphism accounted for 50% (10/20), but fewer cases of chromosomal abnormalities. Among all the abnormal karyotypes, the number of anomalies accounted for 45.59% (150/329). Except for 7 cases of Marker chromosome fetus, the number of pregnancies continued to be selected and the rest were terminated. Structural abnormalities accounted for 8.51% (28/329), 9 patients chose to continue pregnancy. Chromosome polymorphism accounted for 32.87% (118/329), 116 patients chose to continue pregnancy. Conclusion Combined screening of high-risk pregnant women with multiple ways and strictly grasping the indications of prenatal diagnosis. The analysis of karyotype of amniotic fluid, umbilical cord blood and chorionic villus as prenatal diagnosis is of great significance for assessing pregnancy outcome and guiding prenatal and postnatal care.