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目的探讨羊水细胞染色体检查在产前诊断中的作用,并分析染色体异常与高危因素的关系。方法采用细胞遗传学方法,对羊水细胞培养G显带,染色体核型分析。结果 1635例羊水中检出异常核型103例,异常率为6.30%。异常核型分别为:常染色体三体型(13三体.18三体.21三体等)35例(33.98%);易位型3例(2.91%);性染色体异常3例(2.91%);平衡易位和倒位23例(22.33%),诊断嵌合型4例(3.88%),染色体多态性35例(33.98)。导致染色体异常的高危因素中,唐氏筛查为高风险53例占首位(51.46%),其次为高龄孕妇8例(15.5%),超声显示胎儿异常3例(14.56%),夫妇一方为染色体平衡易位携带者4例(3.88%)等。不良孕产史3例(2.91%),高通量基因测序高风险12例(11.6%)。结论 1635例羊水中检出异常核型中唐氏筛查为高风险占首位,超声提示异常组羊水染色体异常检出率明显高于高龄孕妇、产前筛查高风险,夫妇一方染色体异常携带组明显高于超声提示异常,羊水染色体核型分析是重要的染色体异常诊断方法,对于产前诊断具有重要意义。
Objective To investigate the role of amniotic fluid cell chromosome examination in prenatal diagnosis and to analyze the relationship between chromosomal abnormalities and risk factors. Methods Cytogenetic method was used to analyze G - banding and chromosome karyotype of amniotic fluid cells. Results A total of 103 anomalous karyotypes were detected in 1635 cases of amniotic fluid, the abnormal rate was 6.30%. The abnormal karyotypes were 35 cases (33.98%) of autosomal trisomy (13 trisomy 18, trisomy 21, trisomy 21, etc.), 3 cases of translocation (2.91%), 3 cases of sex chromosome abnormalities 23 cases (22.33%) had balanced translocation and inversion, 4 cases (3.88%) had chimerism, 35 cases (33.98) had chromosome polymorphism. Among the high-risk factors that led to chromosomal abnormality, Down’s screening accounted for the highest risk of 53 cases (51.46%), followed by advanced pregnant women (15.5%), ultrasonography showed abnormal fetus in 3 cases (14.56%), Balanced translocation carriers in 4 cases (3.88%) and so on. 3 cases (2.91%) had adverse pregnancy history, and 12 cases (11.6%) had high-risk gene sequencing. Conclusion 1635 cases of amniotic fluid detection of abnormal karyotype Down’s screening for high risk of the first place, ultrasound showed abnormalities amniotic fluid abnormalities were significantly higher than the rate of pregnant women, high risk of prenatal screening, one side of the chromosomal abnormalities carrying group Obviously higher than the ultrasonic abnormalities, amniotic fluid karyotype analysis is an important diagnostic method of chromosomal abnormalities, for prenatal diagnosis is of great significance.