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目的分析产前诊断的指征及异常核型发生的频率与类型,探讨产前诊断在降低出生缺陷发生率的临床价值。方法分析1 692例产前诊断指征、不同指征的异常染色体检出率及相关并发症。结果夫妇一方染色体异常胎儿染色体异常2例(2/6),产前胎儿超声异常标记组异常率10.4%(37/356),染色体异常儿分娩史、家族史异常率7.7%(2/26),高龄孕妇组的异常率4.6%(21/459),孕母血清唐氏筛查阳性组胎儿染色体异常率4.1%(29/701)。1 692例中,异常核型99例,检出率5.9%;染色体数目异常40例(40.4%);21-三体、18-三体和13-三体占26.3%(26/99)。胎死宫内2例(0.12%)。结论遗传咨询、唐氏综合征高风险筛查和胎儿系统超声检查联合产前诊断,安全有效可靠,可提高胎儿染色体病的产前诊断率,降低出生缺陷儿的发生率。
Objective To analyze the indications of prenatal diagnosis and the frequency and types of abnormal karyotypes and discuss the clinical value of prenatal diagnosis in reducing the incidence of birth defects. Methods 1 692 cases of prenatal diagnosis indications, different indications of abnormal chromosome detection rate and related complications. Results Two cases (2/6) of anomalous chromosomal abnormalities on one side of the couple, anomalous rate of 10.4% (37/356), abnormal delivery of chromosomal abnormalities and 7.7% (2/26) (21/459) in the advanced pregnant women group and 4.1% (29/701) in the fetus in the Down’s screening positive pregnant group. Of the 1 692 cases, 99 cases were abnormal karyotypes, the detection rate was 5.9%. There were 40 cases (40.4%) with abnormal chromosome number. 26.3% (26/99) cases were 21-trisomy, 18-trisomy and 13-trisomy. 2 cases of fetal death (0.12%). Conclusions Genetic counseling, high risk screening of Down’s syndrome and ultrasound examination of fetal system combined with prenatal diagnosis are safe, effective and reliable, which can increase the rate of prenatal diagnosis of fetal chromosomal diseases and reduce the incidence of birth defects.