黔东南地区孕妇产前诊断21-三体综合征的特征性分析
贵州医科大学第二附属医院
目的 分析黔东南地区孕妇产前诊断21-三体综合征的特征。方法 选取2023年10月至2025年2月期间,在本院产前诊断中心行产前诊断的孕12~22周,单、活胎妊娠孕妇作为研究对象,产前诊断中心高危病例登记表详细记录孕妇的年龄、文化水平、家庭史以及有害物质接触情况,评估黔东南地区产前发现21-三体综合征与不同民族、年龄、文化水平、家族史、孕期是否不良接触史孕妇中的发病关系。结果 不同民族间胎儿21-三体综合征的发生率无显著差异(P>0.05)。随着年龄的增加,胎儿21-三体综合征的发生率呈上升趋势(P<0.05)。小学及以下文化水平组的孕妇中,21-三体综合征的发生率显著高于其他文化水平组(P<0.05)。有家族史的孕妇中,21-三体综合征的发生率显著高于无家族史组(P<0.05)。有孕期不良接触史的孕妇中,胎儿21-三体综合征的发生率显著高于无接触史组(P<0.05)。结论 黔东南地区胎儿患21-三体综合征的风险和孕妇高龄、文化水平较低、有家族史以及孕期有不良接触史有关。
Objective To analyze the characteristics of prenatal diagnosis of 21-trisomy syndrome in pregnant women in the Qiandongnan region. Methods Pregnant women with singleton live pregnancies at 12~22 weeks of gestation who underwent prenatal diagnosis at the prenatal diagnosis center of our hospital from October 2023 to February 2025 were selected as the research subjects. The high-risk case registration form of the prenatal diagnosis center recorded the pregnant women's age, educational level, family history, and exposure to harmful substances in detail. The study evaluated the incidence of prenatally detected 21-trisomy syndrome in relation to maternal factors including ethnic group, age, educational level, family history, and history of adverse exposure during pregnancy in the Qiandongnan region. Results There was no significant difference in the incidence of fetal 21-trisomy syndrome among different ethnic groups(P>0.05). The incidence of fetal 21-trisomy syndrome showed an upward trend with increasing maternal age(P<0.05). The incidence of 21-trisomy syndrome in pregnant women with primary school education or below was significantly higher than that in other educational level groups(P<0.05). The incidence of 21-trisomy syndrome in pregnant women with a family history was significantly higher than that in those without a family history(P<0.05). Among pregnant women with a history of adverse exposure during pregnancy, the incidence of fetal 21-trisomy syndrome was significantly higher than the non-exposure group(P<0.05). Conclusion The risk of fetal 21-trisomy syndrome in the Qiandongnan region is associated with advanced maternal age, low educational level, family history, and history of adverse exposure during pregnancy.
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共 12 条- [1]张颖,王皖骏,段红蕾,等. 1例无创产前检测提示13-三体综合征与21-三体综合征同时高风险胎儿的产前诊断[J].临床检验杂志,2023,41(8):604-606.
- [2]琚端,李晓洲,苗苗,等.罕见嵌合型2-三体综合征1例的遗传学分析及产前诊断[J].中华医学遗传学杂志,2024,41(5):632-633.
- [3]王俊霞. 21-三体综合征的产前诊断指征及遗传学分析[D].河北医科大学,2023.
- [4]孙晓武.超声胎儿颈项透明层指标与母体血清学筛查在胎儿21-三体综合征产前诊断中的价值[J].当代医学,2023,29(9):134-136.
- [5]蒋丽,汪菁,江蓓蕾. CNV-seq联合染色体G显带核型分析在唐氏综合征产前诊断中的应用价值[J].临床和实验医学杂志,2023,22(1):62-66.
- [6]孙小红,冯暄,刘芙蓉,等.扩展性无创产前检测在胎儿染色体异常中的临床应用效果分析[J].生殖医学杂志,2023,32(3):339-343.
- [7]周乔,沙恩波,李静,等.产前筛查染色体异常胎儿相关资料回顾性分析[C]//中国超声医学工程学会成立四十周年暨第十四次全国超声医学学术大会论文汇编(上册). 2024.
- [8]Schindler EA,Dickerson J,Verna A,et al. Prenatal diagnosis of congenital eyelid eversion in trisomy 21[J].Arch Gynecol Obstet,2024,309(6):2913-2914.
- [9]娄欢,杨小风,郭婷婷,等. Turner综合征孕妇的产前指征与染色体核型及妊娠结局分析[J].中国CT和MRI杂志,2024,22(11):118-120.
- [10]时丽萍,樊星,赵淑敏.早孕期胎儿颜面轮廓超声对21-三体综合征的诊断价值[J].影像科学与光化学,2024,42(3):247-256.
- [11]王菊,翟红梅,刘娜,等.表型正常的夫妇反复妊娠21-三体胎儿的遗传学分析及文献复习[J].中华围产医学杂志,2024,27(10):842-848.
- [12]靳春雷,胡辉,刘姣,等.单核苷酸多态性微阵列分析技术在不同产前诊断指征孕妇中的应用价值[J].检验医学,2024,39(9):841-846.
| 文章编号 | 2025-04-050(期号内编号) |
|---|---|
| 栏目 | 预防医学研究 |
| 作者 | 杨玉琼;唐素蓉;马季;叶军;张云秀 |
| 作者单位 | 贵州医科大学第二附属医院 |
| 基金项目 | 黔东南州科技计划黔东南科合J字[2023]47号 |
| 中图分类号 | R714.5 |
| 卷期页码 | 2025, 1(04): 23-26 |
| 发布时间 | 2025-08-15 |
| 出版时间 | 2025-08-15 |
| 引用信息 | [1]杨玉琼,唐素蓉,马季,等.黔东南地区孕妇产前诊断21-三体综合征的特征性分析[J].疾病预防与控制,2025,1(04):23-26. |
| 全文地址 | 在知网查看该文(kns.cnki.net) |
| 数据抓取时间 | 2026-09-22T12:39:45 |