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目的了解本地区遗传咨询门诊患者的染色体异常情况、频率及对妊娠结局的影响。方法对有不良孕产史、闭经或不孕、无精子症或不育和智力低下者行外周血染色体检查。夫妻一方染色体异常,孕妇孕中期行羊水或脐血产前诊断。结果发现染色体异常核型118例,异常检出率为11.5%。常染色体异常83例,占异常总数的70%;性染色体异常35例,占异常总数的30%。染色体核型异常的夫妻8例,胎儿染色体核型均异常。结论对遗传咨询者进行外周血染色体核型分析,可以明确染色体病的诊断,为患者进一步诊断提供依据,明确临床治疗路径,有利于优生。
Objective To understand the chromosomal abnormalities, frequency and the impact on pregnancy outcomes in genetic counseling clinics in the region. Methods Peripheral blood chromosomal examination was performed on patients with history of poor pregnancy, amenorrhea or infertility, azoospermia or infertility and mental retardation. One of the couple chromosomal abnormalities, pregnant women in the second trimester of amniotic fluid or umbilical cord blood prenatal diagnosis. The results showed that there were 118 cases of chromosomal abnormal karyotype, the abnormal detection rate was 11.5%. 83 cases of autosomal abnormalities, accounting for 70% of the total number of anomalies; sex chromosome abnormalities in 35 cases, accounting for 30% of the total number of anomalies. Chromosome karyotype abnormalities in 8 couples, fetal karyotype abnormalities. Conclusion The analysis of peripheral blood karyotypes in genetic counselors can make clear the diagnosis of chromosomal diseases and provide the basis for further diagnosis of patients. It is helpful for the eugenics to clarify the clinical treatment pathways.