宝鸡地区1008例羊水细胞染色体核型分析

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目的研究与探讨宝鸡地区1008例孕妇在超声引导下进行羊膜腔穿刺术的产前诊断的安全性及应用价值。方法回顾性分析宝鸡地区2014年1月至2016年12月之间进行羊膜腔穿刺术的孕妇共1008例,根据产前诊断的不同指征,分析染色体异常核型的检出率及分布。结果共发现异常核型68例,异常核型检出率为6.74%,其中数目异常21例,占异常核型30.89%,结构异常47例,占异常核型69.11%,唐筛高风险696例(6.61%),高龄孕妇(≥35岁)224例(5.36%),超声提示异常45例(4.44%),不良孕产史32例(6.25%),无创产前DNA检测11例(54.55%)。结论孕中期羊水细胞染色体核型分析具有重要的临床价值,可有效降低出生缺陷,提高人口素质。 Objective To study and explore the safety and application value of prenatal diagnosis of 1008 pregnant women in Baoji region under the guidance of ultrasound guided amniocentesis. Methods A total of 1008 pregnant women undergoing amniocentesis in Baoji region from January 2014 to December 2016 were retrospectively analyzed. According to the different indications of prenatal diagnosis, the detection rate and distribution of chromosomal abnormal karyotypes were analyzed. Results A total of 68 cases of abnormal karyotypes were detected, of which 6.74% were abnormal. Among them, 21 cases were abnormal in number, accounting for 30.89% of abnormal karyotypes, 47 cases were abnormal in structure, accounting for 69.11% of abnormal karyotypes, 696 cases of high risk of Don screenings 224 cases (5.36%) were older pregnant women (≥35 years old), 45 cases (4.44%) were ultrasound abnormalities, 32 cases were poor pregnancy history (6.25%), 11 cases were noninvasive prenatal DNA test (54.55% ). Conclusion The chromosomal karyotypic analysis of amniotic fluid cells during the second trimester has important clinical value, which can effectively reduce the birth defects and improve the population quality.
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