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陈飞.妊娠中期血清标记物检测在唐氏综合征产前筛查中的应用价值研究[J].中国医药科学,2020,(1):209-212        基金项目:
妊娠中期血清标记物检测在唐氏综合征产前筛查中的应用价值研究
Study on application values of serum markers detection in the second trimester of pregnancy in prenatal screening of Down’s syndrome
  
DOI:
中文关键词:  妊娠中期;人类绒毛膜促性腺激素;游离雌三醇;甲胎蛋白;唐氏综合征;产前筛查
英文关键词:Second trimester; Human chorionic gonadotropin; Free estriol; Alpha-fetoprotein; Down’s syndrome; Prenatal screening
作者单位
陈飞 广东省廉江市妇幼保健院检验科,广东廉江 524400 
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中文摘要:
      [摘要] 目的 探讨妊娠中期血清标记物检测在唐氏综合征产前筛查中的应用价值。 方法 选取 2018 年 1月~ 2019 年 1 月我院中唐氏筛查孕妇,应用化学发光法检测的妊娠中期孕妇,分别检测其人类绒毛膜促性腺激素(HCG)、游离雌三醇(uE3)与甲胎蛋白(AFP)含量,之后依据孕妇的年龄、孕周、单双胎情况、吸烟史、体质量、糖尿病患病情况、既往有无异常妊娠史等情况,使用 Prisca 系统对孕妇的妊娠风险进行评估。观察不同年龄段高风险筛查率情况、不同年龄组妊娠中期孕妇高风险确诊情况、染色体异常胎儿母体血清内标记物检测情况、妊娠 15 ~ 20+6 周孕妇血清内标记物检测情况。 结果 200 例唐氏筛查高风险妊娠中期孕妇进行无创 DNA 检测,6 例被检测出筛出染色体异常,结果 4 例孕妇被诊断为唐氏综合征(DS),1 例孕妇被诊断 18- 三体综合征,1 例孕妇被诊断为其他胎儿染色体异常类型。与正常孕妇比较,DS 孕妇的 AFP、uE3 含量明显较低,HCG 含量明显较高,差异有统计学意义(P < 0.05);18- 三体综合征孕妇的 AFP、uE3 与 HCG明显较低,差异有统计学意义(P < 0.05)。随着年龄的不断增长,孕妇的妊娠风险越高;同时随着孕周的不断增加,AFP 含量水平明显提升,HCG 含量明显减少。 结论 对妊娠中期孕妇的血清标记物进行良好的检测能够在较大程度上对胎儿的染色体畸形情况进行预测,并依据结果采取相应的干预措施,能够在较大程度上降低胎儿出生缺陷的发生率,具有较高的临床推广价值。
英文摘要:
      [Abstract] Objective To explore the application values of serum markers detection in the second trimester of pregnancy in prenatal screening of Down’s syndrome. Methods Pregnant women in the second trimester of pregnancy who underwent screening of Down’s syndrome and detected by chemiluminescence from January 2018 to January 2019 were selected. The levels of human chorionic gonadotropin (HCG), free estriol (uE3) and alpha fetoprotein (AFP) were measured. Then, according to the age, gestational age, single and twin fetuses, smoking history, body weight, diabetes status, and previous history of abnormal pregnancy of pregnant women, the pregnancy risk of pregnant women was evaluated using the Prisca system. The high-risk screening rate of different age groups, high-risk diagnosis of pregnant women in the second trimester of pregnancy in different age groups, detection of markers in maternal serum of fetuses with chromosomal abnormalities, and detection of markers in serum of pregnant women at 15-20+6 weeks of gestation were observed. Results Noninvasive DNA testing was performed in 200 women with high risk of Down’s screening in the second trimester, and chromosome abnormalities were detected in 6 women. These included four women diagnosed with Down’s syndrome (DS), one with 18-trisomy syndrome and one with other fetal chromosomal abnormalities. Compared with normal pregnant women, the AFP and uE3 contents of DS pregnant women were significantly lower, and the HCG content was significantly higher, and the difference was statistically significant (P < 0.05). The AFP, uE3 and HCG of pregnant women with 18-trisomy syndrome were significantly lower, and the difference was statistically significant (P < 0.05). The risk of pregnancy increased with age. At the same time, with the increase of gestational age, the level of AFP was significantly increased and the content of HCG was significantly decreased. Conclusion Good detection of serum markers in pregnant women in the second trimester can predict chromosomal malformations in fetuses to a large extent. According to the results, appropriate intervention measures can reduce the incidence of fetal birth defects to a large extent, with a high value of clinical promotion.
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