论文部分内容阅读
目的:分析妊娠中期进行产前诊断的孕妇羊水细胞染色体核型,了解此期异常核型发生的频率、类型及与各种产前诊断指征的关系。方法:对1 544例妊娠中期有产前诊断指征的孕妇行羊膜腔穿刺术,抽取羊水进行细胞培养和染色体核型分析。结果:发现异常核型125例,异常检出率为8.10%;其中染色体三体共46例,占异常核型36.80%,其他异常包括Turner综合征3例,罗伯逊易位3例,平衡易位7例,倒位1例,缺失1例等;发现多态核型56例,包括18例46,XX/XY,1qh+,7例46,XX/XY,inv(9)(p11q12)等。高龄组、高龄+血清筛查高危组、低龄+血清筛查高危组、B超提示胎儿异常组染色体异常检出率分别为6.60%、7.57%、6.42%和21.43%。结论:严格掌握指征采集胎儿羊水细胞进行染色体核型分析具有重要意义,染色体三体型为主要的异常核型;高龄是产前诊断的独立指征;遗传父母多态核型的胎儿可以保留。
OBJECTIVE: To analyze the karyotypes of amniotic fluid cells in prenatal diagnosis during the second trimester of pregnancy and to find out the frequency and type of abnormal karyotypes in this period and the relationship with various prenatal diagnosis indications. Methods: Amniocentesis was performed in 1 544 pregnant women with prenatal diagnosis indications during pregnancy. Amniotic fluid was drawn for cell culture and karyotype analysis. Results: Abnormal karyotypes were detected in 125 cases and the rate of abnormality was 8.10%. Among them, 46 cases were chromosome trisomy, accounting for 36.80% of abnormal karyotypes. Other abnormalities included Turner syndrome in 3 cases, Robertsonian translocation in 3 cases and equilibrium translocation 7 cases, 1 case of inversion, 1 case of deletion, etc. There were 56 cases of polymorphic karyotype including 18 cases of 46, XX / XY, 1qh +, 7 cases of 46, XX / XY, inv (9) (p11q12) and so on. The detection rates of chromosome abnormalities in abnormal group of abnormal fetus were 6.60%, 7.57%, 6.42% and 21.43% respectively in high-risk group, advanced-age + serum screening high-risk group and younger age + serum screening high-risk group. Conclusion: It is of great significance to strictly observe the karyotype analysis of fetal amniotic fluid collected from the fetuses. The trisomy of chromosomes is the main abnormal karyotype. The elderly are independent indications of prenatal diagnosis. The fetuses with genetic parents polymorphic karyotype can be retained.