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目的:探讨羊水细胞染色体异常核型与各产前诊断之间的关系。方法:466例高危孕妇行羊膜腔穿刺术后羊水细胞培养及染色体核型分析。结果:异常核型66例,异常率14.16%,包括染色体数目异常27例,三体综合征22例(21-三体15例、18-三体6例、13-三体1例),占异常染色体核型的33.33%,占染色体数目异常的81.48%;染色体结构异常39例,主要包括染色体多态性、平衡易位、倒位和衍生等,占染色体异常核型的59.10%。异常核型检出率中血清学筛查高危组(14.44%)要高于高龄妊娠组(10.89%)和有不良孕产史组(11.11%)(P<0.05);超声提示胎儿发育异常组(23.26%)要高于血清筛查高危组(P<0.05)。结论:血清筛查高危和超声提示胎儿发育异常是黑龙江地区最主要的产前诊断指征,异常核型以21-三体综合征检出率最高。通过对高危孕妇羊水细胞染色体的核型分析可发现部分染色体疾病,从而避免此类出生缺陷儿的出生。
Objective: To investigate the relationship between chromosomal abnormalities in amniotic fluid cells and prenatal diagnosis. Methods: Amniotic fluid cell culture and karyotype analysis of 466 high risk pregnant women after amniocentesis were performed. Results: There were 66 abnormal karyotypes with an abnormality rate of 14.16%, including 27 cases with abnormal chromosomal number, 22 cases with trisomy (15 cases of 21-trisomy, 6 cases of 18-trisomy, 1 case of 13-trisomy) 33.33% of abnormal chromosome karyotype, accounting for 81.48% of abnormal chromosome number; chromosomal abnormalities in 39 cases, including chromosome polymorphism, balanced translocation, translocation and derivative, accounting for 59.10% of chromosomal abnormal karyotype. The detection rate of abnormal karyotype in high risk group (14.44%) was higher than that in advanced pregnancy group (10.89%) and poor pregnancy history group (11.11%) (P <0.05) (23.26%) higher than serum screening high risk group (P <0.05). Conclusion: Serum screening at high risk and ultrasound fetal development abnormalities is the most important prenatal diagnosis of Heilongjiang Province indications, the abnormal karyotype 21 - trisomy syndrome with the highest detection rate. By analyzing the karyotypes of amniotic fluid cell chromosomes in high-risk pregnant women, some chromosomal diseases can be found, thus avoiding the birth of such birth-defect children.