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目的探讨各种细胞遗传学产前诊断指征与胎儿染色体异常的关系。方法 2011年1月至2013年4月于重庆医科大学附属第一医院妇产科在知情同意的前提下,由超声引导对3495例孕中期高危孕妇(孕16~21+6周)行羊膜腔穿刺术,抽取适量羊水进行细胞培养及染色体核型分析。比较不同产前诊断指征与胎儿染色体异常核型检出率的关系。结果羊水培养成功3494例,成功率99.97%。检出异常核型120例,异常率为3.43%(120/3494),其中染色体数目异常70例,结构异常31例,其他异常19例。各种产前诊断指征中,单纯高龄(分娩时孕妇年龄≥35岁)1498例,检出异常核型47例,异常检出率为3.14%;母血清学筛查高风险1560例,异常核型38例,检出率2.44%;无创产前DNA检测高风险38例,异常核型30例,检出率78.95%,后者检出率分别与前两者相比差异有统计学意义(P<0.05)。结论掌握好各种产前诊断指征,对高危孕妇进行羊膜腔穿刺及染色体核型分析可有效提高胎儿染色体病的检出率,减少出生缺陷的发生。
Objective To investigate the relationship between various cytogenetic prenatal diagnosis indications and fetal chromosomal abnormalities. Methods From January 2011 to April 2013, 3495 middle-term high-risk pregnant women (16 ~ 21 + 6 weeks pregnant) underwent gynecological operation under the condition of informed consent at the Obstetrics and Gynecology Department of the First Affiliated Hospital of Chongqing Medical University. Puncture, extract the appropriate amount of amniotic fluid for cell culture and karyotype analysis. The relationship between different prenatal diagnosis indications and fetal chromosomal abnormality karyotype detection rate was compared. Results Amniotic fluid culture successfully 3494 cases, the success rate of 99.97%. There were 120 cases of abnormal karyotype detected, the abnormality rate was 3.43% (120/3494), including 70 cases of abnormal chromosome number, 31 cases of abnormal structure and 19 cases of other abnormalities. Among the various prenatal diagnosis indications, there were 1498 simple elderly (pregnant women ≥35 years old during childbirth), 47 cases were detected abnormal karyotype, the abnormal detection rate was 3.14%; high risk of maternal serum screening was 1560 cases, abnormal Karyotype in 38 cases, the detection rate was 2.44%; 38 cases of high risk of noninvasive prenatal DNA detection, abnormal karyotype in 30 cases, the detection rate was 78.95%, the latter detection rate, respectively, compared with the former two were statistically significant (P <0.05). Conclusion All kinds of indications for prenatal diagnosis are mastered. Amniocentesis and karyotype analysis of high-risk pregnant women can effectively improve the detection rate of fetal chromosomal diseases and reduce the incidence of birth defects.